"Major category" "Subcategory" "Disease" "Genetic defect" "Inheritance" "score_positive_total" "VariantCounts.VRE" "VariantCounts.ClnVar" "OMIM ID" "AlphaFold_URL" "Uniprot" "HPO IDs" "HPO term" "ICD9" "ICD10" "Associated features" "B cell" "T cell" "Ig" "Neutrophil" "Inheritance detail" "Major_category_original" "GOF/DN details" "T cell details" "B cell details" "Ig details" "Neutrophil details" "Other affected cells" "score5.ClnVar" "score4.ClnVar" "score2.ClnVar" "score0.ClnVar" "score5.VRE" "score4.VRE" "score2.VRE" "score0.VRE" "min_prob" "median_prob" "max_prob" "q1_prob" "q3_prob" "1. CID" "1. T-B+ SCID" "CD3z deficiency" "CD247" "AR" 2 "1 / 0 / 33 / 1" "15 / 0 / 133 / 218" "186780" "https://alphafold.ebi.ac.uk/entry/P20963" "P20963" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal" "No g/d T cells" 15 0 133 218 1 0 33 1 1.79966467304579e-08 2.67991369015326e-07 5.17986091300195e-07 1.42994007872892e-07 3.92988730157761e-07 "1. CID" "1. T-B+ SCID" "CD3d deficiency" "CD3D" "AR" 3 "2 / 1 / 34 / 0" "20 / 10 / 162 / 234" "186790" "https://alphafold.ebi.ac.uk/entry/P04234" "P04234" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal" "No g/d T cells" 20 10 162 234 2 1 34 0 2.09562009056258e-08 2.09756019494343e-08 1.04030479125869e-07 2.096590142753e-08 6.25030405376516e-08 "1. CID" "1. T-B+ SCID" "CD3e deficiency" "CD3E" "AR" 3 "1 / 2 / 29 / 2" "26 / 14 / 173 / 346" "186830" "https://alphafold.ebi.ac.uk/entry/P07766" "P07766" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal" "No g/d T cells" 26 14 173 346 1 2 29 2 1.20180448583409e-07 1.20227036655275e-07 9.59637747246193e-07 1.20203742619342e-07 5.39932391950734e-07 "1. CID" "1. T-B+ SCID" "Coronin-1A deficiency" "CORO1A" "AR" 2 "1 / 1 / 43 / 2" "19 / 14 / 236 / 376" "605000" "https://alphafold.ebi.ac.uk/entry/P31146" "P31146" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" "Detectable thymus, EBV" "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal" NA 19 14 236 376 1 1 43 2 6.82919997819294e-08 6.82919997819294e-08 6.82919997819294e-08 6.82919997819294e-08 6.82919997819294e-08 "1. CID" "1. T-B+ SCID" "gc deficiency (common gamma chain SCID, CD132 deficiency)" "IL2RG" "XL" 3 "1 / 1 / 16 / 28" "194 / 104 / 244 / 414" "308380" "https://alphafold.ebi.ac.uk/entry/P31785" "P31785" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "borderline" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal to high" "Low" "Normal" "Low NK" 194 104 244 414 1 1 16 28 4.03130240561134e-08 4.03130240561134e-08 1.61466061639324e-07 4.03130240561134e-08 1.00889542847719e-07 "1. CID" "1. T-B+ SCID" "IL7Ra deficiency" "IL7R" "AR" 12 "6 / 2 / 81 / 14" "81 / 26 / 438 / 586" "146661" "https://alphafold.ebi.ac.uk/entry/P16871" "P16871" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "borderline" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal to high" "Low" "Normal" NA 81 26 438 586 6 2 81 14 2.49975555315371e-05 5.00469284764987e-05 0.000150244771251726 2.50136708556339e-05 7.50179408641793e-05 "1. CID" "1. T-B+ SCID" "ITPKB deficiency" "ITPKB" "AR" 3 "1 / 2 / 15 / 9" "0 / 2 / 130 / 40" NA "https://alphafold.ebi.ac.uk/entry/P27987" "P27987" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" "FTT" "normal" "low" "low" "mixed" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal to low" "Low Hb, low platelets, low neutrophils" 0 2 130 40 1 2 15 9 0.0424110146204189 1.51104945310287 2.35741565715395 0.776730233861646 1.93423255512841 "1. CID" "1. T-B+ SCID" "JAK3 deficiency" "JAK3" "AR" 12 "5 / 5 / 131 / 13" "152 / 89 / 827 / 1528" "600173" "https://alphafold.ebi.ac.uk/entry/P52333" "P52333" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "borderline" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal to high" "Low" "Normal" "Low NK" 152 89 827 1528 5 5 131 13 6.35033120664029e-07 6.35696530397699e-07 2.54168733376832e-06 6.35297663156914e-07 7.94825059927433e-07 "1. CID" "1. T-B+ SCID" "LAT deficiency" "LAT" "AR" 1 "1 / 0 / 39 / 3" "14 / 2 / 135 / 242" "602354" "https://alphafold.ebi.ac.uk/entry/O43561" "O43561" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" "Adenopathy, splenomegaly, recurrent infections, autoimmunity" "borderline" "mixed" "high" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl to low number" "Nl to low" "High" "Normal" NA 14 2 135 242 1 0 39 3 2.142949366728e-07 2.142949366728e-07 2.142949366728e-07 2.142949366728e-07 2.142949366728e-07 "1. CID" "1. T-B+ SCID" "SLP76 deficiency" "LCP2" "AR" 1 "1 / 0 / 9 / 0" "2 / 0 / 80 / 26" NA "https://alphafold.ebi.ac.uk/entry/Q13094" "Q13094" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "normal" "low" "low" "defective" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low T cells- mainly TEMRA and oligoconal" "Normal" "Low" "Normal but dysfunctional" "Reduced NK degranulation, platelet dysfunction" 2 0 80 26 1 0 9 0 9.799716529671e-09 9.799716529671e-09 9.799716529671e-09 9.799716529671e-09 9.799716529671e-09 "1. CID" "1. T-B+ SCID" "PAX1 deficiency" "PAX1" "AR" 2 "2 / 0 / 95 / 13" "26 / 10 / 435 / 406" NA "https://alphafold.ebi.ac.uk/entry/P15863" "P15863" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" "Athymia, otofaciocervical syndrome" "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal" NA 26 10 435 406 2 0 95 13 1.33858283094065e-06 1.66878621786279e-06 1.99898960478493e-06 1.50368452440172e-06 1.83388791132386e-06 "1. CID" "1. T-B+ SCID" "CD45 deficiency" "PTPRC" "AR" 2 "1 / 1 / 158 / 11" "36 / 34 / 725 / 1540" "151460" "https://alphafold.ebi.ac.uk/entry/P08575" "P08575" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.2" NA "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Normal" "Low" "Normal" NA 36 34 725 1540 1 1 158 11 1.28564740019509e-06 2.5720778441743e-06 3.85850828815351e-06 1.9288626221847e-06 3.2152930661639e-06 "1. CID" "2. T-B- SCID" "Adenosine deaminase (ADA) deficiency" "ADA" "AR" 23 "7 / 5 / 67 / 7" "121 / 138 / 347 / 734" "608958" "https://alphafold.ebi.ac.uk/entry/P00813" "P00813" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.3" "Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects" "low" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Low, decreasing" "Low" "Normal" "Low NK" 121 138 347 734 7 5 67 7 1.48586984037403e-06 2.97216453995177e-06 4.1584886260671e-05 1.48671013772297e-06 8.17657750218244e-06 "1. CID" "2. T-B- SCID" "Reticular dysgenesis" "AK2" "AR" 4 "1 / 2 / 40 / 10" "34 / 22 / 175 / 191" "103020" "https://alphafold.ebi.ac.uk/entry/P54819" "P54819" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.0" "Deafness" "borderline" "low" "low" "low" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Nl to low" "Low" "Low" NA 34 22 175 191 1 2 40 10 3.2276176965367e-07 8.07230269723927e-07 1.29158691300158e-06 3.22919305393916e-07 1.29151326985579e-06 "1. CID" "2. T-B- SCID" "DCLRE1C (Artemis) deficiency" "DCLRE1C" "AR" 8 "5 / 2 / 107 / 10" "170 / 156 / 757 / 1077" "605988" "https://alphafold.ebi.ac.uk/entry/Q96SD1" "Q96SD1" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" "Radiation sensitive" "low" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Low" "Normal" NA 170 156 757 1077 5 2 107 10 4.87405817513844e-06 4.87969663149516e-06 2.93272178523442e-05 4.87641450898791e-06 8.53676720047883e-06 "1. CID" "2. T-B- SCID" "DNA ligase IV deficiency" "LIG4" "AR" 7 "5 / 1 / 146 / 12" "153 / 34 / 728 / 554" "601837" "https://alphafold.ebi.ac.uk/entry/P49917" "P49917" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" "Radiation sensitive, microcephaly" "low" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Low" "Normal" NA 153 34 728 554 5 1 146 12 3.35682640836317e-06 6.71434315525792e-06 3.69572563166445e-05 5.03637936033272e-06 8.40068166193727e-06 "1. CID" "2. T-B- SCID" "Cernunnos/XLF deficiency" "NHEJ1" "AR" 2 "1 / 1 / 42 / 6" "46 / 24 / 178 / 216" "611290" "https://alphafold.ebi.ac.uk/entry/Q9H9Q4" "Q9H9Q4" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" "Radiation sensitive, microcephaly" "low" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Low" "Normal" NA 46 24 178 216 1 1 42 6 9.23012397247757e-07 9.23012397247757e-07 9.23012397247757e-07 9.23012397247757e-07 9.23012397247757e-07 "1. CID" "2. T-B- SCID" "NUDCD3 deficiency" "NUDCD3" "AR" 0 "0 / 0 / 6 / 0" "0 / 2 / 46 / 0" "NA" "https://alphafold.ebi.ac.uk/entry/Q8IVD9" "Q8IVD9" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" "Omenn syndrome" "low" "low" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Decreased" NA NA 0 2 46 0 0 0 6 0 0 0 0 0 0 "1. CID" "2. T-B- SCID" "DNA PKcs deficiency" "PRKDC" "AR" 1 "1 / 0 / 612 / 48" "5 / 0 / 5296 / 4228" "176977" "https://alphafold.ebi.ac.uk/entry/P78527" "P78527" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" "Radiation sensitive" "low" "low" "variable" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Variable" "Normal" NA 5 0 5296 4228 1 0 612 48 4.99273609948744e-06 4.99273609948744e-06 4.99273609948744e-06 4.99273609948744e-06 4.99273609948744e-06 "1. CID" "2. T-B- SCID" "Activated RAC2 defect" "RAC2" "AD" 3 "1 / 1 / 15 / 1" "8 / 2 / 136 / 228" "602049" "https://alphafold.ebi.ac.uk/entry/P15153" "P15153" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.0" "Reticular dysgenesis" "low" "low" "low" "low" NA "1. Immunodeficiencies affecting cellular and humoral immunity" "GOF" "Very low" "Very low" "Low" "Low" NA 8 2 136 228 1 1 15 1 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 "1. CID" "2. T-B- SCID" "RAG1 deficiency" "RAG1" "AR" 38 "20 / 6 / 136 / 14" "157 / 98 / 792 / 664" "179615" "https://alphafold.ebi.ac.uk/entry/P15918" "P15918" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" NA "low" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Low" "Normal" NA 157 98 792 664 20 6 136 14 9.06329849762108e-06 1.81446419345911e-05 0.000117856451555419 9.07226760490514e-06 2.72162467874408e-05 "1. CID" "2. T-B- SCID" "RAG2 deficiency" "RAG2" "AR" 11 "2 / 5 / 76 / 8" "99 / 136 / 446 / 400" "179616" "https://alphafold.ebi.ac.uk/entry/P55895" "P55895" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.1" NA "low" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Very low" "Very low" "Low" "Normal" NA 99 136 446 400 2 5 76 8 6.71300713975262e-07 6.71742161359416e-07 2.68697519349877e-06 6.71481584782025e-07 6.72033904919966e-07 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class I deficiency" "B2M" "AR" 2 "1 / 1 / 8 / 1" "4 / 4 / 82 / 58" "109700" "https://alphafold.ebi.ac.uk/entry/P61769" "P61769" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.6" "Sinopulmonary infections, cutaneous granulomas. Absent b2m associated proteins MHC-I, CD1a, CD1b, CD1c" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD8, Nl CD4, absent MHC I on lymphocytes" "Normal" "Normal" NA NA 4 4 82 58 1 1 8 1 2.37346354749481e-09 2.37346354749481e-09 2.37346354749481e-09 2.37346354749481e-09 2.37346354749481e-09 "1. CID" "3. CID Generally Less Profound than SCID" "BCL10 deficiency" "BCL10" "AR" 1 "1 / 0 / 22 / 2" "38 / 0 / 95 / 104" "616098" "https://alphafold.ebi.ac.uk/entry/O95999" "O95999" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent bacterial and viral infections, candidiasis, gastroenteritis" "borderline" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, low memory T and Treg cells, poor antigen and anti-CD3 proliferation" "Nl number, decreased memory and switched B cells" NA NA NA 38 0 95 104 1 0 22 2 1.87723192965672e-06 1.87723192965672e-06 1.87723192965672e-06 1.87723192965672e-06 1.87723192965672e-06 "1. CID" "3. CID Generally Less Profound than SCID" "CARD11 deficiency (LOF)" "CARD11" "AR" 4 "3 / 1 / 124 / 39" "46 / 40 / 1024 / 1220" "615206" "https://alphafold.ebi.ac.uk/entry/Q9BXL7" "Q9BXL7" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Pneumocystis jirovecii pneumonia, bacterial and viral infections" "normal" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, predominant naïve T-cells, poor proliferation" "Normal, transitional B cell predominance" NA NA NA 46 40 1024 1220 3 1 124 39 6.30519999222552e-07 6.30615495623916e-07 6.30802169488339e-07 6.3057614534813e-07 6.30677640265467e-07 "1. CID" "3. CID Generally Less Profound than SCID" "CD3g deficiency" "CD3G" "AR" 4 "2 / 2 / 19 / 2" "18 / 14 / 157 / 124" "186740" "https://alphafold.ebi.ac.uk/entry/P09693" "P09693" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" NA "normal" "mixed" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, but low TCR expression" "Normal" "Nl" NA NA 18 14 157 124 2 2 19 2 2.41248649550025e-06 4.82666578571047e-06 1.69698886443615e-05 2.41279758549932e-06 9.67279487803182e-06 "1. CID" "3. CID Generally Less Profound than SCID" "CD40 deficiency" "CD40" "AR" 1 "1 / 0 / 21 / 5" "17 / 12 / 177 / 342" "109535" "https://alphafold.ebi.ac.uk/entry/P25942" "P25942" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.05 "D80.5" "Thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections" "variable" "normal" "mixed" "variable" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal" "sIgM+, IgD+ cells present, absent sIgG+, IgA+ and IgE+ cells" "IgM nl or high low IgG, IgA" "Variable" NA 17 12 177 342 1 0 21 5 1.24067017266077e-06 1.24067017266077e-06 1.24067017266077e-06 1.24067017266077e-06 1.24067017266077e-06 "1. CID" "3. CID Generally Less Profound than SCID" "CD40 ligand deficiency (CD154)" "CD40LG" "XL" 3 "1 / 1 / 12 / 9" "148 / 55 / 167 / 222" "300386" "https://alphafold.ebi.ac.uk/entry/P29965" "P29965" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.05 "D80.5" "Thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections" "variable" "mixed" "mixed" "variable" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl to low" "sIgM+, IgD+ cells present, absent sIgG+, IgA+ and IgE+ cells" "IgM nl or high low IgG, IgA" "Variable" NA 148 55 167 222 1 1 12 9 2.19485102608779e-07 2.19485102608779e-07 2.19485102608779e-07 2.19485102608779e-07 2.19485102608779e-07 "1. CID" "3. CID Generally Less Profound than SCID" "CD8 deficiency" "CD8A" "AR" 1 "1 / 0 / 38 / 2" "2 / 2 / 170 / 210" "186910" "https://alphafold.ebi.ac.uk/entry/P01732" "P01732" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, may be asymptomatic" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Absent CD8, nl CD4" "Normal" "Nl" NA NA 2 2 170 210 1 0 38 2 1.82759495847512e-07 1.82759495847512e-07 1.82759495847512e-07 1.82759495847512e-07 1.82759495847512e-07 "1. CID" "3. CID Generally Less Profound than SCID" "CHUK deficiency" "CHUK" "AR" 1 "1 / 0 / 22 / 8" "8 / 0 / 143 / 304" NA "https://alphafold.ebi.ac.uk/entry/O15111" "O15111" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Combined immunodeficiency, recurrent infections (Staphylococcus aureus, mucocutaneous candidiasis, epidermodysplasia verruciformis due to HPV). Absent secondary lymphoid tissues, lymphocytic infiltration of intestine and liver. Skeletal abnormalities, failure to thrive.Normal T cell proliferation, reduced NK function" "low" "normal" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal T, NK cell numbers. Accumulation of immature NK cells" "B cell lymphopenia" "Pan-hypogammaglobulinemia" NA NA 8 0 143 304 1 0 22 8 2.25674009808481e-05 2.25674009808481e-05 2.25674009808481e-05 2.25674009808481e-05 2.25674009808481e-05 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class II deficiency group A" "CIITA" "AR" 4 "3 / 1 / 243 / 24" "118 / 46 / 1246 / 2004" "600005" "https://alphafold.ebi.ac.uk/entry/P33076" "P33076" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.7" "Respiratory and gastrointestinal infections, liver/biliary tract disease" "normal" "low" "mixed" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4 cells Absent MHC II expression on lymphocytes " "Normal" "Normal to low" NA NA 118 46 1246 2004 3 1 243 24 1.93846357667202e-05 1.94010876060302e-05 3.87939128147485e-05 1.93860720490175e-05 2.4260196505395e-05 "1. CID" "3. CID Generally Less Profound than SCID" "COPG1 deficiency" "COPG1" "AR" 0 "0 / 0 / 16 / 0" "2 / 0 / 132 / 32" NA "https://alphafold.ebi.ac.uk/entry/Q9Y678" "Q9Y678" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "recurrent pneumonia, viral respiratory infections, bronchiectasis, chronic EBV, CMV viremia. Failure to thrive impaired T and B cell function in vitro" "borderline" "low" "defective" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "T cell lymphopenia, mostly CD4" "normal slightly reduced" "near-normal levels of serum IgM, G, A • poor/absent Ig responses to vaccines" NA NA 2 0 132 32 0 0 16 0 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "DOCK2 deficiency" "DOCK2" "AR" 2 "1 / 1 / 171 / 22" "31 / 28 / 868 / 1314" "603122" "https://alphafold.ebi.ac.uk/entry/Q92608" "Q92608" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells" "normal" "low" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low" "Normal" "Low" "Normal" NA 31 28 868 1314 1 1 171 22 7.35152523435647e-07 7.35396205023984e-07 7.35639886612321e-07 7.35274364229816e-07 7.35518045818152e-07 "1. CID" "3. CID Generally Less Profound than SCID" "DOCK8 deficiency" "DOCK8" "AR" 7 "3 / 3 / 424 / 29" "198 / 98 / 2369 / 2826" "243700" "https://alphafold.ebi.ac.uk/entry/Q8NF50" "Q8NF50" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis" "low" "low" "mixed" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low, poor proliferation, few, poorly functioning Treg" "Low, low CD27+ memory B cells Poor peripheral B cell tolerance." "Low IgM, normal to high IgG and IgA, high IgE" NA "Low NK" 198 98 2369 2826 3 3 424 29 2.18548569588321e-05 2.18644874792324e-05 0.000318961314340771 2.18617419272709e-05 3.28044088670247e-05 "1. CID" "3. CID Generally Less Profound than SCID" "FCHO1 deficiency" "FCHO1" "AR" 2 "1 / 1 / 137 / 14" "32 / 6 / 603 / 870" "613437" "https://alphafold.ebi.ac.uk/entry/O14526" "O14526" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low" "Normal" "Normal" NA NA 32 6 603 870 1 1 137 14 2.57935162450944e-07 3.86943203071851e-07 5.15951243692758e-07 3.22439182761398e-07 4.51447223382305e-07 "1. CID" "3. CID Generally Less Profound than SCID" "FOXI3 Haploinsufficiency" "FOXI3" "AD" 1 "0 / 1 / 58 / 4" "1 / 12 / 453 / 236" NA "https://alphafold.ebi.ac.uk/entry/A8MTJ6" "A8MTJ6" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Macrocephaly, thymic hypoplasia" "borderline" "low" "normal" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" "NA" "CD4 and CD8 T cell lymphopenia" "Slightly decreased" "Normal" "Normal" NA 1 12 453 236 0 1 58 4 6.57402e-06 6.57402e-06 6.57402e-06 6.57402e-06 6.57402e-06 "1. CID" "3. CID Generally Less Profound than SCID" "ICOS deficiency" "ICOS" "AR" 2 "1 / 1 / 20 / 1" "17 / 6 / 173 / 166" "604558" "https://alphafold.ebi.ac.uk/entry/Q9Y6W8" "Q9Y6W8" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279 "D81.9" "Recurrent infections, autoimmunity, gastroenteritis, granulomas" "normal" "normal" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal" "Normal" "Low" NA NA 17 6 173 166 1 1 20 1 1.3912050378936e-07 1.3912050378936e-07 1.3912050378936e-07 1.3912050378936e-07 1.3912050378936e-07 "1. CID" "3. CID Generally Less Profound than SCID" "ICOLG deficiency" "ICOSLG" "AR" 1 "0 / 1 / 2 / 3" "0 / 4 / 278 / 280" "605717" "https://alphafold.ebi.ac.uk/entry/O75144" "O75144" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279 "D81.9" "Recurrent bacterial and viral infections" "low" "low" "low" "low" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low" "Low" "Low" "Low" NA 0 4 278 280 0 1 2 3 6.83271818407608e-08 6.83271818407608e-08 6.83271818407608e-08 6.83271818407608e-08 6.83271818407608e-08 "1. CID" "3. CID Generally Less Profound than SCID" "IKBKB deficiency" "IKBKB" "AR" 2 "1 / 1 / 75 / 29" "35 / 20 / 504 / 946" "615592" "https://alphafold.ebi.ac.uk/entry/O14920" "O14920" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent bacterial, viral, fungal infections, opportunistic infections" "borderline" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, absent Treg and g/d T cells, impaired TCR activation" "Nl number, poor function" NA NA NA 35 20 504 946 1 1 75 29 3.16088307087084e-07 3.16088307087084e-07 3.16088307087084e-07 3.16088307087084e-07 3.16088307087084e-07 "1. CID" "3. CID Generally Less Profound than SCID" "Ikaros deficiency" "IKZF1" "AD" 2 "1 / 1 / 30 / 2" "14 / 32 / 476 / 220" NA "https://alphafold.ebi.ac.uk/entry/Q13422" "Q13422" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279 "D81.9" "Recurrent sinopulmonary infections, pneumocystis early CID onset" "low" "low" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" "DN" "No memory T cells" "No memory B cells" "Low" NA NA 14 32 476 220 1 1 30 2 6.56758372027347e-06 1.97065418601367e-05 3.28455e-05 1.31370627902051e-05 2.62760209300684e-05 "1. CID" "3. CID Generally Less Profound than SCID" "HELIOS deficiency" "IKZF2" "AR" 0 "0 / 0 / 6 / 1" "0 / 0 / 70 / 16" NA "https://alphafold.ebi.ac.uk/entry/Q9UKS7" "Q9UKS7" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "combined immunodeficiency, recurrent upper respiratory infections/pneumonia, thrush, mucosal ulcers, chronic lymphadenopathy, SLE, ITP, Evan’s syndrome. EBV-associated HLH, lymphoma" "borderline" "variable" "defective" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Increased activated/ exhausted T cells. Increased production pro-inflammatory cytokines by T cells. Increased MAIT, Tfh cells, NK cells. Normal Treg" "normal B cell numbers, but low switched memory. dysregulated germinal centers" "hypogammaglobulinemia with low/normal IgG vaccine responses" NA NA 0 0 70 16 0 0 6 1 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "HELIOS deficiency" "IKZF2" "AD" 0 "0 / 0 / 6 / 1" "0 / 0 / 70 / 16" NA "https://alphafold.ebi.ac.uk/entry/Q9UKS7" "Q9UKS7" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "combined immunodeficiency, recurrent upper respiratory infections/pneumonia, thrush, mucosal ulcers, chronic lymphadenopathy, SLE, ITP, Evan’s syndrome. EBV-associated HLH, lymphoma" "borderline" "variable" "defective" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Increased activated/ exhausted T cells. Increased production pro-inflammatory cytokines by T cells. Increased MAIT, Tfh cells, NK cells. Normal Treg" "normal B cell numbers, but low switched memory. dysregulated germinal centers" "hypogammaglobulinemia with low/normal IgG vaccine responses" NA NA 0 0 70 16 0 0 6 1 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "IL-21 deficiency" "IL21" "AR" 1 "1 / 0 / 13 / 1" "2 / 0 / 117 / 94" "615767" "https://alphafold.ebi.ac.uk/entry/Q9HBE4" "Q9HBE4" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Severe early onset colitis, recurrent sinopulmonary infections" "low" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, nl/low function" "Low" NA NA NA 2 0 117 94 1 0 13 1 5.0510278789993e-09 5.0510278789993e-09 5.0510278789993e-09 5.0510278789993e-09 5.0510278789993e-09 "1. CID" "3. CID Generally Less Profound than SCID" "IL-21R deficiency" "IL21R" "AR" 2 "1 / 1 / 89 / 6" "10 / 10 / 389 / 370" "615207" "https://alphafold.ebi.ac.uk/entry/Q9HBE5" "Q9HBE5" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease" "normal" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, low cytokine production, poor antigen proliferation" "Normal" NA NA NA 10 10 389 370 1 1 89 6 7.15274702791623e-07 7.15274702791623e-07 7.15274702791623e-07 7.15274702791623e-07 7.15274702791623e-07 "1. CID" "3. CID Generally Less Profound than SCID" "IRF4 multimorphic" "IRF4" "AD" 0 "0 / 0 / 38 / 3" "7 / 0 / 275 / 344" NA "https://alphafold.ebi.ac.uk/entry/Q15306" "Q15306" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "PJP, viral" "low" "defective" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal except low Th17 and TFH" "Reduced" "Agammaglobulinemia" "Normal" NA 7 0 275 344 0 0 38 3 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "ITK deficiency" "ITK" "AR" 2 "2 / 0 / 82 / 5" "32 / 6 / 532 / 526" "186973" "https://alphafold.ebi.ac.uk/entry/Q08881" "Q08881" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV associated B cell lymphoproliferation, lymphoma" "normal" "decreased" "variable" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Progressive decrease" "Normal" "Variable" NA NA 32 6 532 526 2 0 82 5 1.53938639216544e-07 1.53957848010416e-07 1.53977056804288e-07 1.5394824361348e-07 1.53967452407352e-07 "1. CID" "3. CID Generally Less Profound than SCID" "LCK deficiency" "LCK" "AR" 2 "1 / 1 / 26 / 5" "18 / 10 / 186 / 352" "615758" "https://alphafold.ebi.ac.uk/entry/P06239" "P06239" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, immune dysregulation, autoimmunity" "normal" "low" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4+, low Treg, restricted T cell repertoire, poor TCR signaling" "Normal" NA NA NA 18 10 186 352 1 1 26 5 2.39221058105049e-07 2.39221058105049e-07 2.39221058105049e-07 2.39221058105049e-07 2.39221058105049e-07 "1. CID" "3. CID Generally Less Profound than SCID" "MALT1 deficiency" "MALT1" "AR" 3 "1 / 1 / 61 / 6" "30 / 18 / 374 / 434" "615468" "https://alphafold.ebi.ac.uk/entry/Q9UDY8" "Q9UDY8" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Bacterial, fungal and viral infections" "normal" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, poor proliferation" "Normal" NA NA NA 30 18 374 434 1 1 61 6 4.8079565968734e-07 4.81178154040854e-07 4.81285763472592e-07 4.80986906864097e-07 4.81231958756723e-07 "1. CID" "3. CID Generally Less Profound than SCID" "MAN2B2 deficiency" "MAN2B2" "AR" 2 "0 / 2 / 48 / 2" "0 / 2 / 268 / 68" NA "https://alphafold.ebi.ac.uk/entry/Q9Y2E5" "Q9Y2E5" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Developmental delay, congenital disorder of glycosylation, microcephaly, vasculitis, arthritis, FTT" "low" "low" "mixed" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low T cells and TRECs" "Low" "Normal IgM, low IgA, high IgE" NA NA 0 2 268 68 0 2 48 2 1.25685613814332e-07 8.66265222358286e-07 1.60684483090224e-06 4.95975418086309e-07 1.23655502663026e-06 "1. CID" "3. CID Generally Less Profound than SCID" "NIK deficiency" "MAP3K14" "AR" 0 "0 / 0 / 80 / 13" "2 / 2 / 424 / 538" "604655" "https://alphafold.ebi.ac.uk/entry/Q99558" "Q99558" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent bacterial, viral and Cryptosporidium infections" "low" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, poor proliferation to antigen" "Low, low switched memory B cells" NA NA "Low NK" 2 2 424 538 0 0 80 13 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "Moesin deficiency" "MSN" "XL" 2 "1 / 1 / 15 / 10" "22 / 10 / 196 / 236" "300988" "https://alphafold.ebi.ac.uk/entry/P26038" "P26038" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections with bacteria, varicella" "low" "defective" NA "low" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, defective migration, proliferaton" "Low number" NA "Low" NA 22 10 196 236 1 1 15 10 1.48836932617979e-08 1.48836932617979e-08 1.48836932617979e-08 1.48836932617979e-08 1.48836932617979e-08 "1. CID" "3. CID Generally Less Profound than SCID" "NFATC1 deficiency" "NFATC1" "AR" NA NA "0 / 0 / 286 / 250" NA "https://alphafold.ebi.ac.uk/entry/O95644" "O95644" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Sinopulmonary infections, warts" "low" "normal" "low" "normal" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal" "Low switched memory" "Hypogammaglobuliemia" "Normal" NA 0 0 286 250 NA NA NA NA 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "Polymerase d 1 deficiency" "POLD1" "AR" 3 "1 / 1 / 430 / 16" "4 / 2 / 6131 / 4468" "174761" "https://alphafold.ebi.ac.uk/entry/P28340" "P28340" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability" "low" "low" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4 T cells" "Low" "Low" NA NA 4 2 6131 4468 1 1 430 16 2.85944269700619e-06 2.85944269700619e-06 2.85944269700619e-06 2.85944269700619e-06 2.85944269700619e-06 "1. CID" "3. CID Generally Less Profound than SCID" "Polymerase d 2 deficiency" "POLD2" "AR" 0 "0 / 0 / 43 / 1" "0 / 0 / 357 / 282" "600815" "https://alphafold.ebi.ac.uk/entry/P49005" "P49005" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability" "low" "low" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4 T cells" "Low" "Low" NA NA 0 0 357 282 0 0 43 1 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "Polymerase d 3 deficiency" "POLD3" "AR" 0 "0 / 0 / 6 / 2" "4 / 0 / 48 / 10" NA "https://alphafold.ebi.ac.uk/entry/Q15054" "Q15054" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Omenn syndrome, athymia" "normal" "low" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low naïve T cells" "Normal" "Low" NA "Athymia" 4 0 48 10 0 0 6 2 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "PRIM1" "PRIM1" "AR" 2 "1 / 1 / 5 / 1" "6 / 2 / 44 / 10" "620005" "https://alphafold.ebi.ac.uk/entry/P49642" "P49642" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Dysmorphic, basal ganglia calcification, Type I IFN" "low" "normal" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal" "Low" "Low" NA NA 6 2 44 10 1 1 5 1 1.84106212164963e-06 1.84106212164963e-06 1.84106212164963e-06 1.84106212164963e-06 1.84106212164963e-06 "1. CID" "3. CID Generally Less Profound than SCID" "PSMB10 associated Omenn Syndrome" "PSMB10" "AD" 1 "1 / 0 / 3 / 0" "16 / 0 / 34 / 14" NA "https://alphafold.ebi.ac.uk/entry/P40306" "P40306" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Omenn syndrome" "low" "low" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low" "Low" "Low" NA NA 16 0 34 14 1 0 3 0 8.19958054498911e-10 8.19958054498911e-10 8.19958054498911e-10 8.19958054498911e-10 8.19958054498911e-10 "1. CID" "3. CID Generally Less Profound than SCID" "c-Rel deficiency" "REL" "AR" 1 "1 / 0 / 27 / 6" "11 / 2 / 129 / 290" "164910" "https://alphafold.ebi.ac.uk/entry/Q04864" "Q04864" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections" "low" "normal" "low" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal" "Low" "Low" NA NA 11 2 129 290 1 0 27 6 1.10045924341931e-07 1.10045924341931e-07 1.10045924341931e-07 1.10045924341931e-07 1.10045924341931e-07 "1. CID" "3. CID Generally Less Profound than SCID" "RelA haplosufficiency" "RELA" "AD" 3 "1 / 1 / 51 / 8" "50 / 12 / 394 / 422" "618287" "https://alphafold.ebi.ac.uk/entry/Q04206" "Q04206" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Mucosal ulceration, impaired NFkB activation" "normal" "normal" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Normal" "Normal" "Normal" NA NA 50 12 394 422 1 1 51 8 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 "1. CID" "3. CID Generally Less Profound than SCID" "RelB deficiency" "RELB" "AR" 2 "1 / 1 / 70 / 3" "2 / 4 / 445 / 432" "604758" "https://alphafold.ebi.ac.uk/entry/Q01201" "Q01201" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections" NA "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, poor diversity, poor function" NA NA NA NA 2 4 445 432 1 1 70 3 4.64454672393805e-08 4.64454672393805e-08 4.64454672393805e-08 4.64454672393805e-08 4.64454672393805e-08 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class II deficiency group C" "RFX5" "AR" 5 "3 / 2 / 93 / 5" "52 / 32 / 488 / 262" "601863" "https://alphafold.ebi.ac.uk/entry/P48382" "P48382" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.7" "Respiratory and gastrointestinal infections, liver/biliary tract disease" "normal" "low" "mixed" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4 cells" "Normal" "Normal to low" NA NA 52 32 488 262 3 2 93 5 1.93385303610833e-06 3.86405561059149e-06 4.44375750717583e-05 1.93397948637368e-06 3.8656435197511e-06 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class II deficiency group B" "RFXANK" "AR" 5 "3 / 1 / 49 / 12" "23 / 21 / 233 / 288" "603200" "https://alphafold.ebi.ac.uk/entry/O14593" "O14593" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.7" "Respiratory and gastrointestinal infections, liver/biliary tract disease" "normal" "low" "mixed" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4 cells" "Normal" "Normal to low" NA NA 23 21 233 288 3 1 49 12 7.87393498806869e-07 7.88495782551292e-07 1.57572784305368e-06 7.87393498806869e-07 1.5755959743631e-06 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class II deficiency group D" "RFXAP" "AR" 2 "1 / 0 / 35 / 3" "28 / 14 / 236 / 130" "601861" "https://alphafold.ebi.ac.uk/entry/O00287" "O00287" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.7" "Respiratory and gastrointestinal infections, liver/biliary tract disease" "normal" "low" "mixed" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD4 cells" "Normal" "Normal to low" NA NA 28 14 236 130 1 0 35 3 1.76007379429575e-07 3.52349135256033e-07 5.28690891082491e-07 2.64178257342804e-07 4.40520013169262e-07 "1. CID" "3. CID Generally Less Profound than SCID" "Rhoh Deficiency" "RHOH" "AR" 1 "0 / 0 / 11 / 1" "4 / 0 / 70 / 92" "602037" "https://alphafold.ebi.ac.uk/entry/Q15669" "Q15669" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "HPV infection, lung granulomas, molluscum contagiosum, lymphoma" "normal" "mixed" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, low naïve T cells, restricted repertoire, poor proliferation to CD3" "Normal" NA NA NA 4 0 70 92 0 0 11 1 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "SASH3 deficiency" "SASH3" "XL" 1 "1 / 0 / 7 / 1" "8 / 0 / 62 / 12" NA "https://alphafold.ebi.ac.uk/entry/O75995" "O75995" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Combined immunodeficiency and immune dysregulation, recurrent infections, autoimmune cytopenias. " "low" "low" "defective" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "CD4+ T cell, NK cell lymphopenia low naïve CD4 and CD8 T cells" "B cell lymphopenia hi BM plasmablasts" "low serum IgG, IgA reduced specific Ab responses" NA NA 8 0 62 12 1 0 7 1 1.16545567792865e-08 1.16545567792865e-08 1.16545567792865e-08 1.16545567792865e-08 1.16545567792865e-08 "1. CID" "3. CID Generally Less Profound than SCID" "MST1 deficiency" "STK4" "AR" 4 "3 / 1 / 40 / 7" "25 / 10 / 211 / 254" "614868" "https://alphafold.ebi.ac.uk/entry/Q13043" "Q13043" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease" "low" "low" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low, low terminal differentiated effector memory (TEMRA) cells, low naïve T cells, poor proliferation" "Low" NA NA NA 25 10 211 254 3 1 40 7 3.46408570162188e-06 3.46754713191105e-06 1.04373082402611e-05 3.46601322838534e-06 5.210655954952e-06 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class I deficiency" "TAP1" "AR" 4 "3 / 1 / 96 / 19" "44 / 2 / 412 / 428" "170260" "https://alphafold.ebi.ac.uk/entry/Q03518" "Q03518" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.6" "Vasculitis, pyoderma gangrenosum" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD8, Nl CD4, absent MHC I on lymphocytes" "Normal" "Normal" NA NA 44 2 412 428 3 1 96 19 8.04720596915723e-06 2.81853516652105e-05 5.63668030718045e-05 8.05192898810773e-06 5.03296007699484e-05 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class I deficiency" "TAP2" "AR" 0 "0 / 0 / 8 / 6" "36 / 10 / 420 / 418" "170261" "https://alphafold.ebi.ac.uk/entry/Q03519" "Q03519" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.6" "Vasculitis, pyoderma gangrenosum" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD8, Nl CD4, absent MHC I on lymphocytes" "Normal" "Normal" NA NA 36 10 420 418 0 0 8 6 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "MHC class I deficiency" "TAPBP" "AR" 1 "0 / 1 / 55 / 15" "2 / 0 / 382 / 260" "601962" "https://alphafold.ebi.ac.uk/entry/O15533" "O15533" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.6" "Vasculitis,pyoderma gangrenosum" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD8, Nl CD4, absent MHC I on lymphocytes" "Normal" "Normal" NA NA 2 0 382 260 0 1 55 15 7.97128368159329e-06 7.97128368159329e-06 7.97128368159329e-06 7.97128368159329e-06 7.97128368159329e-06 "1. CID" "3. CID Generally Less Profound than SCID" "TFRC deficiency" "TFRC" "AR" 1 "1 / 0 / 78 / 7" "2 / 0 / 551 / 668" "616740" "https://alphafold.ebi.ac.uk/entry/P02786" "P02786" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, thrombocytopenia" "borderline" "defective" NA "low" NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl number, poor proliferation" "Nl number, low memory B cells" NA "Low" NA 2 0 551 668 1 0 78 7 5.76781278544589e-06 5.76781278544589e-06 5.76781278544589e-06 5.76781278544589e-06 5.76781278544589e-06 "1. CID" "3. CID Generally Less Profound than SCID" "OX40 deficiency" "TNFRSF4" "AR" 1 "1 / 0 / 63 / 6" "2 / 0 / 343 / 296" "615593" "https://alphafold.ebi.ac.uk/entry/P43489" "P43489" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Impaired immunity to HHV8, Kaposi’s sarcoma" "borderline" "defective" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Nl numbers, low antigen specific memory CD4+" "Nl numbers, low memory B cells" NA NA NA 2 0 343 296 1 0 63 6 5.50596760548832e-07 5.50596760548832e-07 5.50596760548832e-07 5.50596760548832e-07 5.50596760548832e-07 "1. CID" "3. CID Generally Less Profound than SCID" "TCRa deficiency" "TRAC" "AR" NA NA "2 / 0 / 0 / 0" "615387" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea" "normal" "low" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Absent TCRab, all T cells are gd, poor proliferation" "Normal" NA NA NA 2 0 0 0 NA NA NA NA 0 0 0 0 0 "1. CID" "3. CID Generally Less Profound than SCID" "ZAP70 combined hypomorphic GOF" "ZAP70" "AR" 2 "1 / 1 / 70 / 4" "46 / 22 / 439 / 530" "176947" "https://alphafold.ebi.ac.uk/entry/P43403" "P43403" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Severe autoimmunity" "borderline" "low" NA NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" "LOF GOF" "Decreased CD8, normal or decreased CD4 cells" "Normal or decreased" NA NA NA 46 22 439 530 1 1 70 4 6.90800392699594e-08 1.03589219137352e-07 1.38098399004744e-07 8.63346292036555e-08 1.20843809071048e-07 "1. CID" "3. CID Generally Less Profound than SCID" "ZAP-70 deficiency (ZAP70 LOF)" "ZAP70" "AR" 2 "1 / 1 / 70 / 4" "46 / 22 / 439 / 530" "176947" "https://alphafold.ebi.ac.uk/entry/P43403" "P43403" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "May have immune dysregulation, autoimmunity" "normal" "low" "normal" NA NA "1. Immunodeficiencies affecting cellular and humoral immunity" NA "Low CD8, Nl CD4 number but poor function" "Normal" "Nl" NA NA 46 22 439 530 1 1 70 4 6.90800392699594e-08 1.03589219137352e-07 1.38098399004744e-07 8.63346292036555e-08 1.20843809071048e-07 "2. CID+" "1. Immunodeficiency with Congenital Thrombocytopenia" "ARPC1B deficiency" "ARPC1B" "AR" 1 "0 / 1 / 9 / 0" "36 / 10 / 252 / 360" "604223" "https://alphafold.ebi.ac.uk/entry/O15143" "O15143" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching" "normal" "normal" "high" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal Numbers" "High IgE" NA NA 36 10 252 360 0 1 9 0 4.2167796690228e-08 4.2167796690228e-08 4.2167796690228e-08 4.2167796690228e-08 4.2167796690228e-08 "2. CID+" "1. Immunodeficiency with Congenital Thrombocytopenia" "IKZF2 DN" "IKZF2" "AD" 0 "0 / 0 / 6 / 1" "0 / 0 / 70 / 16" "606234" "https://alphafold.ebi.ac.uk/entry/Q9UKS7" "Q9UKS7" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Developmental delay, hearing loss, cleft palate, abnormal teeth" "borderline" "low" "mixed" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "DN" "CD4 and CD8 T cell lymphopenia with low TRECs" "Normal to low" "Normal or low" NA NA 0 0 70 16 0 0 6 1 0 0 0 0 0 "2. CID+" "1. Immunodeficiency with Congenital Thrombocytopenia" "Wiskott-Aldrich syndrome (WAS LOF)" "WAS" "XL" 3 "1 / 1 / 36 / 17" "266 / 86 / 434 / 560" "300392" "https://alphafold.ebi.ac.uk/entry/P42768" "P42768" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.12 "D82.0" "Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis. XL thrombocytopenia is a mild form of WAS" "normal" "low" "mixed" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Progressive decrease in numbers, Abnormal lymphocyte responses to anti-CD3" "Normal numbers" "High IgE, low IgM" NA NA 266 86 434 560 1 1 36 17 2.45643444308153e-07 2.45643444308153e-07 2.47912462795771e-07 2.45643444308153e-07 2.46777953551962e-07 "2. CID+" "1. Immunodeficiency with Congenital Thrombocytopenia" "WIP deficiency" "WIPF1" "AR" 1 "1 / 0 / 60 / 7" "10 / 0 / 310 / 316" "602357" "https://alphafold.ebi.ac.uk/entry/O43516" "O43516" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent" "borderline" "defective" "high" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Reduced, defective lymphocyte responses to anti-CD3" "Normal or low" "High IgE" NA NA 10 0 310 316 1 0 60 7 1.22249978875897e-05 1.22249978875897e-05 1.22249978875897e-05 1.22249978875897e-05 1.22249978875897e-05 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Ataxia-telangiectasia" "ATM" "AR" 93 "40 / 11 / 922 / 24" "4596 / 1199 / 18503 / 10647" "607585" "https://alphafold.ebi.ac.uk/entry/Q13315" "Q13315" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 362.15 "D81.9" "Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations" "normal" "decreased" "variable" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Progressive decrease, abnormal proliferation to mitogens" "Normal" "Variable" NA NA 4596 1199 18503 10647 40 11 922 24 5.10014989190213e-06 5.10584918535682e-06 0.000153283141210751 5.10343436212146e-06 1.02082575963805e-05 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Bloom Syndrome" "BLM" "AR" 19 "8 / 5 / 385 / 12" "603 / 279 / 5283 / 3007" "604610" "https://alphafold.ebi.ac.uk/entry/P54132" "P54132" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability" "normal" "normal" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Low" NA NA 603 279 5283 3007 8 5 385 12 2.49183457780037e-06 2.49432671436385e-06 6.48065157679832e-05 2.49317926945759e-06 7.48369549357527e-06 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Immunodeficiency with centromeric instability and facial anomalies, ICF3" "CDCA7" "AR" 2 "1 / 1 / 47 / 1" "4 / 4 / 214 / 272" "609937" "https://alphafold.ebi.ac.uk/entry/Q9BWT1" "Q9BWT1" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16" "borderline" "defective" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "responses to PHA may be decreased" "Decreased or normal" "Variably low IgG, IgA" NA NA 4 4 214 272 1 1 47 1 2.35246517704601e-08 2.35246517704601e-08 2.35246517704601e-08 2.35246517704601e-08 2.35246517704601e-08 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Immunodeficiency with centromeric instability and facial anomalies, ICF1" "DNMT3B" "AR" 5 "2 / 3 / 131 / 4" "49 / 29 / 678 / 1032" "602900" "https://alphafold.ebi.ac.uk/entry/Q9UBC3" "Q9UBC3" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16" "borderline" "mixed" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal, responses to PHA may be decreased" "Decreased or normal" "Variably low IgG, IgA" NA NA 49 29 678 1032 2 3 131 4 2.85134996709403e-07 2.85318571885694e-07 8.55304807298064e-07 2.85168847453822e-07 5.70324253375312e-07 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "GINS1 deficiency" "GINS1" "AR" 1 "0 / 1 / 25 / 2" "2 / 2 / 230 / 114" "610608" "https://alphafold.ebi.ac.uk/entry/Q14691" "Q14691" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "IUGR" "borderline" "mixed" "mixed" "low" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low or normal" "Low or normal" "High IgA, low IgM and IgG" "Low" "Low NK" 2 2 230 114 0 1 25 2 4.67364770936789e-06 4.67364770936789e-06 4.67364770936789e-06 4.67364770936789e-06 4.67364770936789e-06 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "GINS4 deficiency" "GINS4" "AR" NA NA "0 / 0 / 30 / 2" "610611" "https://alphafold.ebi.ac.uk/entry/Q9BRT9" "Q9BRT9" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Herpes family viruses, growth delay" "normal" "normal" "mixed" "low" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Normal or increased" "Low" "Low NK cells" 0 0 30 2 NA NA NA NA 0 0 0 0 0 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Immunodeficiency with centromeric instability and facial anomalies, ICF4" "HELLS" "AR" 2 "1 / 1 / 45 / 5" "26 / 8 / 280 / 464" "603946" "https://alphafold.ebi.ac.uk/entry/Q9NRZ9" "Q9NRZ9" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16" "borderline" "mixed" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal," "Decreased or normal" "Variably low IgG, IgA" NA NA 26 8 280 464 1 1 45 5 1.55035939130168e-07 1.55035939130168e-07 1.55035939130168e-07 1.55035939130168e-07 1.55035939130168e-07 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Ligase I deficiency" "LIG1" "AR" 1 "1 / 0 / 129 / 18" "4 / 2 / 559 / 892" "126391" "https://alphafold.ebi.ac.uk/entry/P18858" "P18858" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity" "normal" "low" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Lymphopenia, decreased mitogen response" "Normal" "Low, poor function" NA NA 4 2 559 892 1 0 129 18 9.89636777833068e-07 9.89636777833068e-07 9.89636777833068e-07 9.89636777833068e-07 9.89636777833068e-07 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "MCM10 deficiency" "MCM10" "AR" 1 "1 / 0 / 11 / 2" "8 / 0 / 116 / 72" NA "https://alphafold.ebi.ac.uk/entry/Q7L590" "Q7L590" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "CMV, HLH-like, phenocopies GINS1 and MCM4" "low" "low" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Mild lymphopenia with decreased CM, EM T cells" "Low" "Slightly low IgG" NA "VERY low NK, absent CD56dim, poor NK function" 8 0 116 72 1 0 11 2 1.06694923634436e-07 1.06694923634436e-07 1.06694923634436e-07 1.06694923634436e-07 1.06694923634436e-07 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "MCM4 deficiency" "MCM4" "AR" 2 "1 / 1 / 139 / 4" "2 / 2 / 751 / 554" "602638" "https://alphafold.ebi.ac.uk/entry/P33991" "P33991" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure" "normal" "normal" "normal" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Normal" NA "Low NK" 2 2 751 554 1 1 139 4 1.175932918118e-05 1.175932918118e-05 1.175932918118e-05 1.175932918118e-05 1.175932918118e-05 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Nijmegen breakage syndrome" "NBN" "AR" 13 "5 / 3 / 252 / 8" "468 / 360 / 3956 / 2199" "602667" "https://alphafold.ebi.ac.uk/entry/O60934" "O60934" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability" "low" "decreased" "variable" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Progressive decrease" "Variably reduced" "Variable" NA NA 468 360 3956 2199 5 3 252 8 4.67077458586097e-06 4.67777800241604e-06 1.8686263304788e-05 4.6730426974366e-06 9.35052092213307e-06 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "NSMCE3 deficiency" "NSMCE3" "AR" 2 "2 / 0 / 39 / 8" "2 / 0 / 156 / 208" "608243" "https://alphafold.ebi.ac.uk/entry/Q96MG7" "Q96MG7" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity" "normal" "decreased" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Number decreased, poor response to mitogens and antigens" "Normal" "Normal IgG, IgA, normal to elevated IgM; decreased antibody responses to PPS" NA NA 2 0 156 208 2 0 39 8 2.82020183677363e-06 1.26902900828723e-05 2.25603783289709e-05 7.75524595982296e-06 1.76253342059216e-05 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "PMS2 Deficiency" "PMS2" "AR" 29 "16 / 5 / 376 / 19" "1342 / 301 / 6142 / 2808" "600259" "https://alphafold.ebi.ac.uk/entry/P54278" "P54278" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, café-au-lait spots, lymphoma, colorectal carcinoma, brain tumors" "low" "normal" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Low B cells, switched and non-switched" "Low IgG and IgA, high IgM, abnormal antibody responses" NA NA 1342 301 6142 2808 16 5 376 19 2.36174301126763e-05 2.36407281227094e-05 0.000590457497600424 2.36258432829757e-05 4.72521754628056e-05 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "X-linked reticulate pigmentary disorder-POLA1" "POLA1" "XL" 2 "1 / 1 / 73 / 33" "14 / 8 / 764 / 740" "301220" "https://alphafold.ebi.ac.uk/entry/P09884" "P09884" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Hyperpigmentation, characteristic facies, lung and GI involvement" NA NA NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA NA NA NA NA NA 14 8 764 740 1 1 73 33 2.84884930082663e-07 2.8716030580271e-07 2.89435681522757e-07 2.86022617942686e-07 2.88297993662734e-07 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "POLE1 (Polymerase e subunit 1) deficiency (FILS syndrome)" "POLE1" "AR" NA NA NA "174762" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature" "low" "decreased" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased T cell proliferation" "Low memory B cells" NA NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "POLE2 (Polymerase e subunit 2) deficiency" "POLE2" "AR" 0 "0 / 0 / 50 / 9" "0 / 0 / 429 / 316" "602670" "https://alphafold.ebi.ac.uk/entry/P56282" "P56282" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism" "low" "defective" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Lymphopenia, lack of TRECS, absent proliferation in response to antigens" "Very low" NA NA NA 0 0 429 316 0 0 50 9 0 0 0 0 0 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "RAD50 deficiency" "RAD50" "AR" 5 "1 / 3 / 36 / 2" "636 / 218 / 5264 / 2837" "613078" "https://alphafold.ebi.ac.uk/entry/Q92878" "Q92878" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Microcephaly, mental retardation, bird-like face, short stature." "low" "low" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low" "Low" NA NA NA 636 218 5264 2837 1 3 36 2 5.81163840522454e-08 5.82482427946375e-08 3.47465604741138e-07 5.81282452329545e-08 1.16162604408499e-07 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "RECQL4 disorders" "RECQL4" "AR" 28 "14 / 7 / 734 / 38" "560 / 144 / 5601 / 3478" "268400" "https://alphafold.ebi.ac.uk/entry/O94761" "O94761" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" NA "borderline" "mixed" "mixed" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal or low" "Normal or low" "Normal or low" NA NA 560 144 5601 3478 14 7 734 38 3.09826341977637e-05 3.12085391426317e-05 0.000568153234234042 3.099159774375e-05 0.000100731674531095 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "RNF168 deficiency (Radiosensitivity, Immune Deficiency, Dysmorphic features, Learning difficulties [RIDDLE] Syndrome)" "RNF168" "AR" 4 "2 / 0 / 67 / 12" "49 / 12 / 339 / 292" "612688" "https://alphafold.ebi.ac.uk/entry/Q8IYW5" "Q8IYW5" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity" "normal" "normal" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Low IgG or IgA" NA NA 49 12 339 292 2 0 67 12 7.32349416376598e-06 1.46328421171121e-05 2.9260774673837e-05 1.28014558821411e-05 1.82938745029277e-05 "2. CID+" "2. DNA Repair Defects other than those listed in Table 1" "Immunodeficiency with centromeric instability and facial anomalies, ICF2" "ZBTB24" "AR" 6 "5 / 1 / 80 / 8" "74 / 26 / 370 / 520" "614064" "https://alphafold.ebi.ac.uk/entry/O43167" "O43167" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16" "borderline" "mixed" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal" "Decreased or normal" "Variably low IgG, IgA" NA NA 74 26 370 520 5 1 80 8 1.20402882190962e-06 2.40763138725688e-06 3.6124372348629e-06 1.20424590346542e-06 3.61098107388731e-06 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "Chromosome 11q deletion syndrome (Jacobsen syndrome)" "11q23del" "AD" NA NA NA "147791" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403; HP:0012759" "Abnormality of the immune system; T lymphocytopenia; Neurodevelopmental abnormality" 279.2 "D81.9" "Recurrent respiratory infections, multiple warts, facial dysmorphism, growth retardation" "decreased" "low" "low" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Variably low" "Decreased numbers of B cells and switched memory B cells" "Variably low" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "CHARGE syndrome due to CHD7 deficiency" "CHD7" "AD" 3 "1 / 1 / 324 / 158" "1157 / 287 / 3640 / 2805" "608892" "https://alphafold.ebi.ac.uk/entry/Q9P2D1" "Q9P2D1" "HP:0002715; HP:0005403; HP:0012759" "Abnormality of the immune system; T lymphocytopenia; Neurodevelopmental abnormality" 279.2 "D81.9" "Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs" "normal" "defective" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal, response to PHA may be decreased" "Normal" "Normal or decreased" "Normal" NA 1157 287 3640 2805 1 1 324 158 6.56732493153564e-06 6.56732493153564e-06 6.56832e-06 6.56732493153564e-06 6.56782246576782e-06 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "Chromosome 10p13-p14 deletion Syndrome (10p13-p14DS)" "Del10p13-p14" "AD" NA NA NA "601362" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Hypoparathyroidism, renal disease, deafness, growth retardation, facial dysmorphism, cardiac defects may be present, recurrent infections +/-" "normal" "mixed" "normal" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal, rarely lymphopenia and decreased lymphoproliferation to mitogens and antigens, hypolastic thymus may be present" "Normal" "Normal" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "FOXN1 Haplosufficiency" "FOXN1" "AD" 4 "2 / 1 / 128 / 10" "97 / 54 / 724 / 738" NA "https://alphafold.ebi.ac.uk/entry/O15353" "O15353" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent, viral and bacterial respiratory tract infections; skin involvement (eczema, dermatitis), nail dystropyhy" "borderline" "low" NA "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Severe T cell lymphopenia at birth, nomrmalised by adulthood" "Normal or low" NA "Normal" NA 97 54 724 738 2 1 128 10 6.67096593212875e-06 6.67403475083102e-06 6.6767112117905e-06 6.67310375893313e-06 6.67486765329322e-06 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "Winged helix FOXN1 deficiency (Nude SCID)" "FOXN1" "AR" 4 "2 / 1 / 128 / 10" "97 / 54 / 724 / 738" "600838" "https://alphafold.ebi.ac.uk/entry/O15353" "O15353" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect" "normal" "low" "low" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Very low" "Normal" "Low" "Normal" NA 97 54 724 738 2 1 128 10 6.67096593212875e-06 6.67403475083102e-06 6.6767112117905e-06 6.67310375893313e-06 6.67486765329322e-06 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "Chromosome 22q11.2 deletion Syndrome (22q11.2DS) (AKA DiGeorge/velocardiofacial syndrome)" "Large (3Mb) deletion of 22q11.2" "AD" NA NA NA "602054" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403; HP:0012759" "Abnormality of the immune system; T lymphocytopenia; Neurodevelopmental abnormality" 279.2 "D82.1" "Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability" "normal" "low" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "5% have < 1500 CD3T cells/uL in neonatal period" "Normal numbers in childhood usually" "Normal or decreased" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "CHARGE syndrome due to SEMA3E deficiency" "SEMA3E" "AD" 1 "0 / 1 / 89 / 8" "0 / 2 / 844 / 794" "608166" "https://alphafold.ebi.ac.uk/entry/O15041" "O15041" "HP:0002715; HP:0005403; HP:0012759" "Abnormality of the immune system; T lymphocytopenia; Neurodevelopmental abnormality" 279.2 "D81.9" "Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs" "normal" "defective" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal, response to PHA may be decreased" "Normal" "Normal or decreased" "Normal" NA 0 2 844 794 0 1 89 8 6.56922318935786e-06 6.56922318935786e-06 6.56922318935786e-06 6.56922318935786e-06 6.56922318935786e-06 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "TBX1 deficiency" "TBX1" "AD" 3 "1 / 1 / 110 / 12" "81 / 23 / 1128 / 864" "602054" "https://alphafold.ebi.ac.uk/entry/O43435" "O43435" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D82.1" "Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability" "normal" "mixed" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal" "Normal" "Normal or decreased" "Normal" NA 81 23 1128 864 1 1 110 12 6.56836020887385e-06 6.56836020887385e-06 6.56836020887385e-06 6.56836020887385e-06 6.56836020887385e-06 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "CHARGE syndrome" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403; HP:0012759" "Abnormality of the immune system; T lymphocytopenia; Neurodevelopmental abnormality" 279.2 "D81.9" "Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs" "normal" "defective" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal, response to PHA may be decreased" "Normal" "Normal or decreased" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "2. CID+" "3. Thymic Defects with Additional Congenital Anomalies" "DiGeorge/velocardiofacial syndrome" NA "Sporadic" NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403; HP:0012759" "Abnormality of the immune system; T lymphocytopenia; Neurodevelopmental abnormality" 279.2 "D82.1" "Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability" "normal" "mixed" "mixed" "normal" "exposure" "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased or normal" "Normal" "Normal or decreased" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "2. CID+" "4. Immuno-osseous Dysplasias" "Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3 Deficiency)" "EXTL3" "AR" 3 "1 / 1 / 110 / 6" "2 / 2 / 484 / 540" "617425" "https://alphafold.ebi.ac.uk/entry/O43909" "O43909" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay" "normal" "low" "mixed" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Reduced" "Normal" "Decreased to normal" NA NA 2 2 484 540 1 1 110 6 2.65692000381149e-07 2.65800400251507e-07 1.06257203382706e-06 2.65746200316328e-07 6.64186217039281e-07 "2. CID+" "4. Immuno-osseous Dysplasias" "MYSM1 deficiency" "MYSM1" "AR" 3 "1 / 2 / 62 / 12" "47 / 14 / 384 / 462" "612176" "https://alphafold.ebi.ac.uk/entry/Q5VVJ2" "Q5VVJ2" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay." "defective" "low" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "T cell lymphopenia, reduced naïve T cells" "Immature B cells" NA NA NA 47 14 384 462 1 2 62 12 1.37226587631505e-05 1.37304076058329e-05 0.000301962376621224 1.37265331844917e-05 0.000157846392113529 "2. CID+" "4. Immuno-osseous Dysplasias" "Cartilage hair hypoplasia (CHH)" "RMRP" "AR" NA NA "238 / 124 / 1051 / 62" "157660" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D82.2" "Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine" "normal" "variable" NA "variable" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Varies from severely decreased (SCID) to normal, impaired lymphocyte proliferation" "Normal" NA "Variable" NA 238 124 1051 62 NA NA NA NA 0 0 0 0 0 "2. CID+" "4. Immuno-osseous Dysplasias" "MOPD1 deficiency (Roifman syndrome)" "RNU4ATAC" "AR" NA NA "16 / 15 / 362 / 32" "601428" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature" "normal" "normal" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Hypogammaglobulinemia, variably decreased specific antibodies" NA NA 16 15 362 32 NA NA NA NA 0 0 0 0 0 "2. CID+" "4. Immuno-osseous Dysplasias" "Schimke Immuno-osseous Dysplasia" "SMARCAL1" "AR" 11 "7 / 2 / 126 / 16" "180 / 72 / 828 / 1328" "606622" "https://alphafold.ebi.ac.uk/entry/Q9NZC9" "Q9NZC9" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.2 "D81.9" "Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure" "normal" "decreased" NA "variable" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased" "Normal" NA "Variable" NA 180 72 828 1328 7 2 126 16 1.64576111099057e-06 3.2921273497959e-06 3.12625928476001e-05 1.64629098400723e-06 9.05817236317663e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "CARD11 DN LOF" "CARD11" "AD" 4 "3 / 1 / 124 / 39" "46 / 40 / 1024 / 1220" "607210" "https://alphafold.ebi.ac.uk/entry/Q9BXL7" "Q9BXL7" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Severe atopy, recurrent infections" "normal" "defective" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "DN" "Normal numbers, low mitogens" "Normal numbers" "High IgE, poor specific antibody production" NA NA 46 40 1024 1220 3 1 124 39 6.30519999222552e-07 6.30615495623916e-07 6.30802169488339e-07 6.3057614534813e-07 6.30677640265467e-07 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "ERBIN deficiency" "ERBIN" "AD" 0 "0 / 0 / 143 / 20" "0 / 0 / 1054 / 650" "606944" "https://alphafold.ebi.ac.uk/entry/Q96RT1" "Q96RT1" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some" "normal" "high" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Increased Treg" "Normal" "Normal to increased IgE" "Normal" NA 0 0 1054 650 0 0 143 20 0 0 0 0 0 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "IL6 receptor deficiency" "IL6R" "AR" 1 "1 / 0 / 65 / 9" "6 / 0 / 247 / 312" "147880" "https://alphafold.ebi.ac.uk/entry/P08887" "P08887" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels," "normal" "normal" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "High IgE" "Normal" NA 6 0 247 312 1 0 65 9 4.99612082509915e-06 4.99612082509915e-06 4.99612082509915e-06 4.99612082509915e-06 4.99612082509915e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "IL6 signal transducer (IL6ST) deficiency" "IL6ST" "AD" 2 "1 / 1 / 95 / 17" "31 / 6 / 641 / 398" NA "https://alphafold.ebi.ac.uk/entry/P40189" "P40189" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "HIES – STAT3-like; dermatitis/eczema, eosinophilia, recurrent skin infections, pneumonia, bronchiectasis, pneumatoceles with severe secondary pulmonary aspergillosis, connective tissue defects (scoliosis, face, joints, fractures, palate, tooth retention). Phenocopies aspects of IL6R and IL11R deficiencies (due to unresponsiveness to these cytokines)" "borderline" "mixed" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" "DN" "Normal T cell numbers, increased naïve CD4 and CD8 T cell proportions. Decreased TCM CD4+ and CD8+ T cells, TEM CD8 T cells; MAIT, Tfh cells. Increased Th2. Low to normal NK cell counts" "Normal numbers of B cells, low memory B cells" "Normal/low IgG, A, Normal IgM. Hyper IgE. Vaccine IgG normal" "Normal" NA 31 6 641 398 1 1 95 17 6.6260507874427e-06 6.6260507874427e-06 6.6260507874427e-06 6.6260507874427e-06 6.6260507874427e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "IL6 signal transducer (IL6ST) deficiency" "IL6ST" "AR" 2 "1 / 1 / 95 / 17" "31 / 6 / 641 / 398" "618523" "https://alphafold.ebi.ac.uk/entry/P40189" "P40189" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "A spectrum ranging from severe atopy to fatal Stuve-Weidemann-like syndrome; skeletal dysplasia, lung dysfunction, renal abnormalities, thrombocytopenia, dermatitis, eczema. Defective acute phase response." NA NA NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Most patients died early, no data" "Most patients died early, no data" "Most patients died early, no data" NA NA 31 6 641 398 1 1 95 17 6.6260507874427e-06 6.6260507874427e-06 6.6260507874427e-06 6.6260507874427e-06 6.6260507874427e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "PGM3 deficiency" "PGM3" "AR" 6 "2 / 2 / 58 / 6" "89 / 24 / 373 / 646" "172100" "https://alphafold.ebi.ac.uk/entry/O95394" "O95394" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination" "low" "mixed" "mixed" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "CD8 and CD4 T cells may be decreased" "Low B and memory B cells" "Normal or elevated IgG and IgA, most high IgE," NA NA 89 24 373 646 2 2 58 6 4.99665105180483e-06 7.49884120047241e-06 3.00097947069149e-05 4.99806517964525e-06 1.75084672255546e-05 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "Comel-Netherton syndrome" "SPINK5" "AR" 18 "13 / 4 / 158 / 21" "156 / 48 / 867 / 1080" "605010" "https://alphafold.ebi.ac.uk/entry/Q9NQ38" "Q9NQ38" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive" "low" "normal" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Low Switched and non-switched B cells" "High IgE and IgA" "Normal" NA 156 48 867 1080 13 4 158 21 3.87554018910262e-05 5.83779211578066e-05 0.000232709962544718 3.87791970000527e-05 0.000116611713963012 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "AD-HIES Job syndrome" "STAT3" "AD" 3 "1 / 1 / 29 / 15" "88 / 84 / 676 / 796" "102582" "https://alphafold.ebi.ac.uk/entry/P40763" "P40763" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Distinctive facial features (broad nasal bridge), bacterial infections (boils and pulmonary abscesses, pneumatoceles) due to S. aureus, pulmonary aspergillus, Pneumocystis jirovecii, eczema, mucocutaneous candidiasis, hyperextensible joints, osteoporosis and bone fractures, scoliosis, retention of primary teeth, coronary and cerebral aneurysm formation" "borderline" "defective" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" "LOF, DN" "Normal overall, Th-17 and T-follicular helper cells decreased" "Normal, reduced switched and non-switched memory B cells, BAFF expression increased" "High IgE" "Normal" NA 88 84 676 796 1 1 29 15 6.5681876399845e-06 6.56987e-06 6.57652e-06 6.56902881999225e-06 6.573195e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "STAT6 disorder" "STAT6" "AD" 0 "0 / 0 / 12 / 4" "12 / 0 / 106 / 26" "620532" "https://alphafold.ebi.ac.uk/entry/P42226" "P42226" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Severe atopy, short stature" "normal" "variable" "high" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "GOF" "Normal with Th2 skew" "Normal" "High IgE" NA "Eosinophilia" 12 0 106 26 0 0 12 4 0 0 0 0 0 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "Loeys Dietz syndrome due to TGFBR1 deficiency" "TGFBR1" "AD" 4 "1 / 1 / 67 / 5" "85 / 88 / 1336 / 706" "609192" "https://alphafold.ebi.ac.uk/entry/P36897" "P36897" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms." "normal" "normal" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Increased IgE" "Normal" NA 85 88 1336 706 1 1 67 5 6.5681876399845e-06 6.5735e-06 6.57774e-06 6.57084381999225e-06 6.57562e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "Loeys Dietz syndrome due to TGFBR2 deficiency" "TGFBR2" "AD" 3 "1 / 1 / 95 / 7" "96 / 122 / 1465 / 852" "610168" "https://alphafold.ebi.ac.uk/entry/P37173" "P37173" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms." "normal" "normal" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Increased IgE" "Normal" NA 96 122 1465 852 1 1 95 7 6.56766998771846e-06 6.56766998771846e-06 6.56766998771846e-06 6.56766998771846e-06 6.56766998771846e-06 "2. CID+" "5. Hyper IgE Syndromes (HIES)" "ZNF341 deficiency AR-HIES" "ZNF341" "AR" 2 "1 / 1 / 143 / 20" "31 / 14 / 540 / 654" "618282" "https://alphafold.ebi.ac.uk/entry/Q9BYN7" "Q9BYN7" "HP:0001051; HP:0002715" "Seborrheic dermatitis; Abnormality of the immune system" 279.2 "D82.4" "Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth" "decreased" "low" "high" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased Th17 cells" "Decreased memory B cells" "High IgE and IgG" "Normal" NA 31 14 540 654 1 1 143 20 1.04264488919518e-06 1.04289474447988e-06 1.04314459976458e-06 1.04276981683753e-06 1.04301967212223e-06 "2. CID+" "6. Defects of Vitamin B12 and Folate Metabolism" "Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency" "MTHFD1" "AR" 6 "3 / 2 / 95 / 11" "23 / 42 / 432 / 616" "172460" "https://alphafold.ebi.ac.uk/entry/P11586" "P11586" "HP:0002715; HP:0012335" "Abnormality of the immune system; Abnormality of folate metabolism" 279.2 "D81.9" "Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive" "low" "mixed" "low" "low" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low thymic output, normal in vitro proliferation" "Low" "Low" "Low" NA 23 42 432 616 3 2 95 11 1.69255873223793e-05 3.38617285520655e-05 0.000270915583481715 2.11699408729473e-05 3.38750610396653e-05 "2. CID+" "6. Defects of Vitamin B12 and Folate Metabolism" "Folate malabsorption" "SLC19A1" "AR" NA NA "2 / 0 / 184 / 184" NA "https://alphafold.ebi.ac.uk/entry/P41440" "P41440" "HP:0002715; HP:0012335" "Abnormality of the immune system; Abnormality of folate metabolism" 279.2 "D81.9" "Mucositis, megaloblastic anemia" "borderline" "decreased" "mixed" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "T cell proliferation reduced" "Slightly low" "Normal or low" "Normal" NA 2 0 184 184 NA NA NA NA 0 0 0 0 0 "2. CID+" "6. Defects of Vitamin B12 and Folate Metabolism" "SLC46A1/PCFT deficiency causing hereditary folate malabsorbtion" "SLC46A1" "AR" 3 "2 / 1 / 57 / 5" "36 / 12 / 439 / 258" "229050" "https://alphafold.ebi.ac.uk/entry/Q96NT5" "Q96NT5" "HP:0002715; HP:0012335" "Abnormality of the immune system; Abnormality of folate metabolism" 279.2 "D81.9" "Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability" "variable" "variable" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Variable numbers and activation profile" "Variable" "Low" NA NA 36 12 439 258 2 1 57 5 2.13228136226369e-07 6.39850158364233e-07 2.7659794526182e-06 4.26539147295301e-07 1.70291480549122e-06 "2. CID+" "6. Defects of Vitamin B12 and Folate Metabolism" "Transcobalamin 2 deficiency" "TCN2" "AR" 5 "3 / 1 / 95 / 17" "90 / 20 / 512 / 832" "613441" "https://alphafold.ebi.ac.uk/entry/P20062" "P20062" "HP:0002715; HP:0012335" "Abnormality of the immune system; Abnormality of folate metabolism" 279.2 "D81.9" "Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability" "variable" "normal" "low" "variable" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Variable" "Low" "Variable" NA 90 20 512 832 3 1 95 17 1.41248108114367e-05 1.41265681210993e-05 2.82564904984594e-05 1.41248108114367e-05 1.4131965546662e-05 "2. CID+" "7. Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)" "EDA-ID due to IKBKB GOF mutation" "IKBKB" "AD" 2 "1 / 1 / 75 / 29" "35 / 20 / 504 / 946" "618204" "https://alphafold.ebi.ac.uk/entry/O14920" "O14920" "HP:0000968; HP:0002715" "Ectodermal dysplasia; Abnormality of the immune system" 279.2 "D81.9" "Recurrent bacterial, viral, fungal infections, variable ectodermal defects" "borderline" "low" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "GOF" "Low" "Normal count, poor function" "Low" NA NA 35 20 504 946 1 1 75 29 3.16088307087084e-07 3.16088307087084e-07 3.16088307087084e-07 3.16088307087084e-07 3.16088307087084e-07 "2. CID+" "7. Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)" "EDA-ID due to NEMO /IKBKG deficiency (ectodermal dysplasia, immune deficiency)" "IKBKG" "XL" 3 "1 / 1 / 5 / 2" "101 / 36 / 102 / 38" "300248" "https://alphafold.ebi.ac.uk/entry/Q9Y6K9" "Q9Y6K9" "HP:0000968; HP:0002715" "Ectodermal dysplasia; Abnormality of the immune system" 279.2 "D81.9" "Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction" "borderline" "defective" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal or decreased, TCR activation impaired" "Normal, Low memory and isotype switched B cells" "Decreased, some with elevated IgA, IgM, poor specific antibody responses, absent antibody to polysaccharide antigens" NA "Poor NK function" 101 36 102 38 1 1 5 2 4.47024882221904e-08 4.47024882221904e-08 4.47024882221904e-08 4.47024882221904e-08 4.47024882221904e-08 "2. CID+" "7. Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)" "EDA-ID due to IKBA GOF" "NFKBIA" "AD" 1 "1 / 0 / 31 / 9" "20 / 4 / 300 / 354" "164008" "https://alphafold.ebi.ac.uk/entry/P25963" "P25963" "HP:0000968; HP:0002715" "Ectodermal dysplasia; Abnormality of the immune system" 279.2 "D81.9" "Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction" "variable" "defective" "defective" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "GOF" "Normal total T cells, TCR activation impaired" "Normal B cell numbers, impaired BCR activation, low memory and isotype switched B cells" "Decreased IgG and IgA, elevated IgM, poor specific antibody responses, absent antibody to polysaccharide antigens" NA NA 20 4 300 354 1 0 31 9 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 "2. CID+" "8. Calcium Channel Defects" "CRACR2A deficiency" "CRACR2A" "AR" 0 "0 / 0 / 21 / 0" "0 / 0 / 156 / 44" NA "https://alphafold.ebi.ac.uk/entry/Q9BSW2" "Q9BSW2" "HP:0002715; HP:0003198" "Abnormality of the immune system; Myopathy" 279.2 "D81.9" "Later onset chronic diarrhea, recurrent lower respiratory tract infections, including pneumonia. Poor T cell activation/proliferation in vitro" "borderline" "mixed" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Mild CD4 T cell lymphopenia (low naïve CD4 T). Normal NK cell numbers" "Normal B cell numbers, low switched memory B cells" "Panhypogamma (IgG, undetectable; IgM, IgA low). intact B cell function in vitro" NA NA 0 0 156 44 0 0 21 0 0 0 0 0 0 "2. CID+" "8. Calcium Channel Defects" "ITPR3" "ITPR3" "AR" 1 "1 / 0 / 56 / 14" "2 / 4 / 461 / 438" NA "https://alphafold.ebi.ac.uk/entry/Q14573" "Q14573" "HP:0002715; HP:0003198" "Abnormality of the immune system; Myopathy" 279.2 "D81.9" "Autoimmune cytopenias, enteropathy, Charcot Marie Tooth in one patient" "low" "low" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low T cell numbers, impaired T cell activation and proliferation." "Low" "Low" NA NA 2 4 461 438 1 0 56 14 7.37825500167468e-06 7.37825500167468e-06 7.37825500167468e-06 7.37825500167468e-06 7.37825500167468e-06 "2. CID+" "8. Calcium Channel Defects" "ORAI-1 deficiency" "ORAI1" "AR" 2 "1 / 1 / 66 / 8" "23 / 16 / 501 / 308" "610277" "https://alphafold.ebi.ac.uk/entry/Q96D31" "Q96D31" "HP:0002715; HP:0003198" "Abnormality of the immune system; Myopathy" 279.2 "D81.9" "Autoimmunity, EDA, non-progressive myopathy" "normal" "defective" "normal" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal, defective TCR mediated activation" "Normal" "Normal" NA NA 23 16 501 308 1 1 66 8 3.2283859336351e-06 9.69070801738049e-06 1.61530301011259e-05 6.45954697550779e-06 1.29218690592532e-05 "2. CID+" "8. Calcium Channel Defects" "STIM1 deficiency" "STIM1" "AR" 2 "1 / 1 / 132 / 11" "47 / 31 / 880 / 678" "605921" "https://alphafold.ebi.ac.uk/entry/Q13586" "Q13586" "HP:0002715; HP:0003198" "Abnormality of the immune system; Myopathy" 279.2 "D81.9" "Autoimmunity, EDA, non-progressive myopathy" "normal" "defective" "normal" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal, defective TCR mediated activation" "Normal" "Normal" NA NA 47 31 880 678 1 1 132 11 5.44541570425835e-07 5.44541570425835e-07 5.44541570425835e-07 5.44541570425835e-07 5.44541570425835e-07 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "BCL11B deficiency" "BCL11B" "AD" 3 "1 / 1 / 63 / 10" "66 / 42 / 717 / 738" "617237" "https://alphafold.ebi.ac.uk/entry/Q9C0K0" "Q9C0K0" "HP:0000695; HP:0002715" "Natal tooth; Abnormality of the immune system" 279.2 "D81.9" "Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits" "normal" "low" "normal" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low" "Normal" "Normal" NA NA 66 42 717 738 1 1 63 10 6.56810135894017e-06 6.56810135894017e-06 6.56810135894017e-06 6.56810135894017e-06 6.56810135894017e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Hennekam-lymphangiectasia-lymphedema syndrome due to CCBE1 deficiency" "CCBE1" "AR" 2 "1 / 1 / 78 / 4" "19 / 12 / 581 / 485" "612753" "https://alphafold.ebi.ac.uk/entry/Q6UXH8" "Q6UXH8" "HP:0002715; HP:0031842" "Abnormality of the immune system; Lymphangiectasis" 279.2 "D81.9" "Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features" "low" "mixed" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low/variable" "Low/variable" NA NA NA 19 12 581 485 1 1 78 4 3.37069749022786e-07 1.6826781020345e-06 3.02828645504622e-06 1.00987392552864e-06 2.35548227854036e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "CD28 deficiency" "CD28" "AR" 0 "0 / 0 / 2 / 0" "2 / 0 / 12 / 6" NA "https://alphafold.ebi.ac.uk/entry/P10747" "P10747" "HP:0002715; HP:0031842" "Abnormality of the immune system; Lymphangiectasis" 279.2 "D81.9" "HPV susceptibility" "normal" "normal" "normal" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal numbers of T and myeloid cells with decreased NK cells" "Normal numbers of total B cells and subsets" "Normal serum IgM, G, A; • intact levels of pathogen-spec IgG" NA NA 2 0 12 6 0 0 2 0 0 0 0 0 0 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "DIAPH1 deficiency" "DIAPH1" "AR" 4 "2 / 1 / 205 / 13" "69 / 43 / 1854 / 1430" NA "https://alphafold.ebi.ac.uk/entry/O60610" "O60610" "HP:0002715; HP:0031842" "Abnormality of the immune system; Lymphangiectasis" 279.2 "D81.9" "seizures, cortical blindness, microcephaly syndrome (SCBMS). Recurrent bacterial, viral, fungal infections, B-lymphoma. Decreased T cell activation/proliferation in vitro, impaired adhesion/MTOC repositioning to immune synapse, defective cytoskeletal organization and mitochondrial dysfunction in SCBMS pathogenesis" "variable" "decreased" "mixed" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Decreased naive T cells, RTEs" "hi naïve/transitional, low memory" "Low IgM, normal IgG, variable IgA. Near normal vaccine resp" NA NA 69 43 1854 1430 2 1 205 13 2.50684928945136e-07 2.50841347062884e-07 2.50970145357233e-07 2.50772618923373e-07 2.50903170246545e-07 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Vici syndrome due to EPG5 deficiency" "EPG5" "AR" 13 "7 / 3 / 351 / 44" "277 / 91 / 1829 / 2688" "615068" "https://alphafold.ebi.ac.uk/entry/Q9HCE0" "Q9HCE0" "HP:0000518; HP:0002715" "Cataract; Abnormality of the immune system" 279.2 "D81.9" "Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis" "defective" "low" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Profound depletion of CD4+ cells" "Defective" NA NA NA 277 91 1829 2688 7 3 351 44 1.38968246486889e-05 2.77953818750005e-05 0.000111274627501484 1.39013931267371e-05 2.78154745933428e-05 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Hennekam-lymphangiectasia-lymphedema syndrome due to FAT4 deficiency" "FAT4" "AR" 2 "1 / 1 / 599 / 96" "76 / 32 / 3709 / 2498" "612411" "https://alphafold.ebi.ac.uk/entry/Q6V0I7" "Q6V0I7" "HP:0002715; HP:0031842" "Abnormality of the immune system; Lymphangiectasis" 279.2 "D81.9" "Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features" "low" "mixed" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low/variable" "Low/variable" NA NA NA 76 32 3709 2498 1 1 599 96 3.45477387138209e-05 3.45477387138209e-05 3.45477387138209e-05 3.45477387138209e-05 3.45477387138209e-05 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "AIOLOS deficiency" "IKZF3" "AD" 1 "1 / 0 / 4 / 1" "2 / 0 / 66 / 14" NA "https://alphafold.ebi.ac.uk/entry/Q9UKT9" "Q9UKT9" "HP:0002715; HP:0031842" "Abnormality of the immune system; Lymphangiectasis" 279.2 "D81.9" "EBV susceptibility, recurrent sinopulmonary/respiratory infections, PJP, warts, M avium. B cell lymphoma (2/3), B-CLL" "defective" "variable" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "DN" "Normal numbers T, NK cells. Increased naïve CD4+ T cells, RTE. Decreased memory, Tfh; CD40L induction. Increased %’s CD8 T cells; activated T cells" "Abnormal B cell development (decreased BM B precursors; hi CD21lo B; decreased memory B cells). Decreased response to CD40" "Severe hypogamma" NA NA 2 0 66 14 1 0 4 1 6.56879167077216e-06 6.56879167077216e-06 6.56879167077216e-06 6.56879167077216e-06 6.56879167077216e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Kabuki Syndrome 2 due to KDM6A deficiency" "KDM6A" "XL" 3 "1 / 1 / 51 / 31" "208 / 104 / 1074 / 921" "300128" "https://alphafold.ebi.ac.uk/entry/O15550" "O15550" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 279.2 "D81.9" "Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present" "normal" "normal" "low" "normal" "females_affected" "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Low IgA and occasionally low IgG" "Normal" NA 208 104 1074 921 1 1 51 31 2.14257191547335e-06 2.14257191547335e-06 2.16783474041243e-06 2.14257191547335e-06 2.15520332794289e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Wiedemann-Steiner syndrome" "KMT2A" "AD" 3 "1 / 1 / 239 / 66" "655 / 224 / 3211 / 2239" "605130" "https://alphafold.ebi.ac.uk/entry/Q03164" "Q03164" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 279.2 "D81.9" "Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability" "decreased" "normal" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Variably decreased switched memory B cells" "Low" NA NA 655 224 3211 2239 1 1 239 66 6.56801508016262e-06 6.56801508016262e-06 6.56801508016262e-06 6.56801508016262e-06 6.56801508016262e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Kabuki Syndrome 1 due to KMT2D deficiency" "KMT2D" "AD" 5 "3 / 1 / 410 / 508" "1322 / 473 / 5450 / 5780" "602113" "https://alphafold.ebi.ac.uk/entry/O14686" "O14686" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 279.2 "D81.9" "Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present" "normal" "normal" "low" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Normal" "Low IgA and occasionally low IgG" "Normal" NA 1322 473 5450 5780 3 1 410 508 6.57082e-06 6.57229e-06 1.97241e-05 6.57091e-06 6.57246e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "NFE2L2 GOF" "NFE2L2" "AD" 3 "1 / 1 / 42 / 17" "6 / 2 / 380 / 322" "617744" "https://alphafold.ebi.ac.uk/entry/Q16236" "Q16236" "HP:0002715; HP:0012758" "Abnormality of the immune system; Neurodevelopmental delay" 279.2 "D81.9" "Recurrent respiratory and skin infections, growth retardation, , developmental delay; white matter cerebral lesions, increased level of homocysteine; increased expression of stress response genes" "decreased" NA "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA NA "Decreased switched memory B cells" "Low" NA NA 6 2 380 322 1 1 42 17 6.56715241704045e-06 6.56715241704045e-06 6.56715241704045e-06 6.56715241704045e-06 6.56715241704045e-06 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Purine nucleoside phosphorylase (PNP) deficiency" "PNP" "AR" 6 "4 / 1 / 34 / 4" "31 / 24 / 240 / 250" "164050" "https://alphafold.ebi.ac.uk/entry/P00491" "P00491" "HP:0002715; HP:0012759" "Abnormality of the immune system; Neurodevelopmental abnormality" 279.2 "D81.9" "Autoimmune haemolytic anemia, neurological impairment" "normal" "decreased" "mixed" "variable" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Progressive decrease" "Normal" "Normal to low" "Variable" NA 31 24 240 250 4 1 34 4 2.87812544728395e-06 2.87956262841377e-06 2.87834164623077e-05 2.87908831482679e-06 1.36766627081472e-05 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "HOIL1 deficiency" "RBCK1" "AR" 3 "1 / 1 / 113 / 22" "54 / 16 / 409 / 550" "610924" "https://alphafold.ebi.ac.uk/entry/Q9BYM8" "Q9BYM8" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.2 "D81.9" "Bacterial infections, autoinflammation, amylopectinosis" "borderline" "normal" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal numbers" "Normal, decreased memory B cells" NA NA NA 54 16 409 550 1 1 113 22 8.31771822196752e-08 8.32236618903291e-08 1.66452806013972e-07 8.32004220550021e-08 1.2483823395215e-07 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "HOIP deficiency" "RNF31" "AR" 1 "0 / 1 / 135 / 10" "4 / 2 / 814 / 702" "612487" "https://alphafold.ebi.ac.uk/entry/Q96EP0" "Q96EP0" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.2 "D81.9" "Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia" "borderline" "normal" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal numbers" "Normal, decreased memory B cells" NA NA NA 4 2 814 702 0 1 135 10 4.2575466834184e-07 4.2575466834184e-07 4.2575466834184e-07 4.2575466834184e-07 4.2575466834184e-07 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Tricho-hepato-enteric syndrome due to SKIV2L mutations" "SKIV2L" "AR" 11 "6 / 3 / 151 / 14" NA "614602" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002014; HP:0002715" "Diarrhea; Abnormality of the immune system" 279.2 "D81.9" "Respiratory infections,IUGR, facial dysmorphic features, wooly hair, early onset intractable diarrhea, liver cirrhosis, platelet abnormalities" "low" "defective" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Impaired function" "Variably low switched memory B cells" "Low" NA NA NA NA NA NA 6 3 151 14 1.56583311859383e-05 3.13149556244381e-05 0.000328893096993521 1.56672910478183e-05 4.69827887454367e-05 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Hepatic veno-occlusive disease with immunodeficiency (VODI)" "SP110" "AR" 4 "2 / 1 / 107 / 18" "39 / 21 / 518 / 413" "604457" "https://alphafold.ebi.ac.uk/entry/Q9HB58" "Q9HB58" "HP:0002415; HP:0002715" "Leukodystrophy; Abnormality of the immune system" 279.2 "D81.9" "Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy" "borderline" "defective" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal (decreased memory T cells)" "Normal (decreased memory B cells)" "Low" NA NA 39 21 518 413 2 1 107 18 8.89258922944626e-05 0.00013320324145877 0.000444309119543687 0.00012211996880065 0.000210993646347043 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "STAT5b deficiency" "STAT5B" "AD" 2 "1 / 1 / 53 / 3" "49 / 11 / 480 / 492" "604260" "https://alphafold.ebi.ac.uk/entry/P51692" "P51692" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 279.2 "D81.9" "Growth-failure, eczema" "normal" "normal" "high" NA NA "2. Combined immunodeficiencies with associated or syndromic features" "DN" "Normal" "Normal" "Increased igE" NA NA 49 11 480 492 1 1 53 3 4.58395992128974e-08 4.5857498286582e-08 4.58753973602666e-08 4.58485487497397e-08 4.58664478234243e-08 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "STAT5b deficiency" "STAT5B" "AR" 2 "1 / 1 / 53 / 3" "49 / 11 / 480 / 492" "245590" "https://alphafold.ebi.ac.uk/entry/P51692" "P51692" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 279.2 "D81.9" "Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity" "normal" "decreased" "normal" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Modestly decreased" "Normal" "Normal" NA NA 49 11 480 492 1 1 53 3 4.58395992128974e-08 4.5857498286582e-08 4.58753973602666e-08 4.58485487497397e-08 4.58664478234243e-08 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Tricho-hepato-enteric syndrome due to TTC37 mutations" "TTC37" "AR" 6 "4 / 1 / 181 / 21" NA "222470" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002014; HP:0002715" "Diarrhea; Abnormality of the immune system" 279.2 "D81.9" "Respiratory infections,IUGR, facial dysmorphic features, wooly hair, early onset intractable diarrhea, liver cirrhosis, platelet abnormalities" "low" "defective" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Impaired function" "Variably low switched memory B cells" "Low" NA NA NA NA NA NA 4 1 181 21 6.67826971325493e-06 1.67099037395279e-05 6.01942768653038e-05 8.35612239278357e-06 3.00929496128204e-05 "2. CID+" "9. Other Combined immunodeficiencies wwith syndromic features" "Immunodeficiency with multiple intestinal atresias" "TTC7A" "AR" 7 "4 / 1 / 208 / 20" "81 / 48 / 936 / 1114" "609332" "https://alphafold.ebi.ac.uk/entry/Q9ULT0" "Q9ULT0" "HP:0002715; HP:0011100" "Abnormality of the immune system; Intestinal atresia" 279.2 "D81.9" "Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype" "borderline" "variable" "low" "normal" NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Variable, but sometimes absent low TRECs" "Normal or low" "Low" "Normal" NA 81 48 936 1114 4 1 208 20 3.33559240553607e-06 3.33730365972015e-06 1.00041572217906e-05 3.33723510799511e-06 6.67219023557781e-06 "2. CID+" "9. Other Defects" "BMFS2 (Hebo deficiency)" "ERCC6L2" "AR" 3 "1 / 1 / 78 / 12" "65 / 28 / 1067 / 830" "615667" "https://alphafold.ebi.ac.uk/entry/Q5T890" "Q5T890" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, learning difficulties, microcephaly, facial dysmorphism" NA NA NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA NA NA NA NA "Hematopoietic stem cell" 65 28 1067 830 1 1 78 12 7.40777524303835e-06 0.000229952918565248 0.000318488062800658 0.000118680346904143 0.000274220490682953 "2. CID+" "9. Other Defects" "FLT3L deficiency" "FLT3LG" "AR" 0 "0 / 0 / 4 / 1" "2 / 0 / 26 / 4" NA "https://alphafold.ebi.ac.uk/entry/P49771" "P49771" "HP:0002715; HP:0011100" "Abnormality of the immune system; Intestinal atresia" 279.2 "D81.9" "Viral infections, diarrhea" "decreased" "normal" "high" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Normal" "Decreased" "Increased" NA "Hypoplastic anaemia, monocytopenia, DC-penia, low/absence of dermal DCs." 2 0 26 4 0 0 4 1 0 0 0 0 0 "2. CID+" "9. Other Defects" "PTCRA deficiency" "PTCRA" "AR" 0 "0 / 0 / 9 / 1" "2 / 0 / 54 / 10" NA "https://alphafold.ebi.ac.uk/entry/Q6ISU1" "Q6ISU1" "HP:0002715; HP:0011100" "Abnormality of the immune system; Intestinal atresia" 279.2 "D81.9" "Autoantibodies, norma pateints are normal" "normal" "low" NA NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low T cell in infancy" "Normal" NA NA NA 2 0 54 10 0 0 9 1 0 0 0 0 0 "2. CID+" "9. Other Defects" "SGPL1 deficiency" "SGPL1" "AR" 5 "2 / 2 / 43 / 5" "36 / 14 / 228 / 324" "617575" "https://alphafold.ebi.ac.uk/entry/O95470" "O95470" "HP:0002715; HP:0011100" "Abnormality of the immune system; Intestinal atresia" 279.2 "D81.9" "Nephrotic syndrome, adrenal insufficiency, ichthyosis/acanthosis, dyslipidaemia, mild hypothyroidism, neurological defects" "low" "low" "low" NA NA "2. Combined immunodeficiencies with associated or syndromic features" NA "Low" "Low" "Low maybe due to nephrotic syndrome" NA "Low or normal NK cells." 36 14 228 324 2 2 43 5 1.33982688114442e-06 2.68134324105978e-06 4.02126316751992e-06 1.34085761125652e-06 4.01977414352398e-06 "3. PAD" "1. Agammaglobulinemia" "BLNK deficiency" "BLNK" "AR" 2 "1 / 1 / 58 / 4" "15 / 12 / 274 / 418" "604515" "https://alphafold.ebi.ac.uk/entry/Q8WV28" "Q8WV28" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, normal numbers of pro-B cells" "low" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Very low" "Very low" NA NA 15 12 274 418 1 1 58 4 2.1001790821256e-07 2.1001790821256e-07 2.1001790821256e-07 2.1001790821256e-07 2.1001790821256e-07 "3. PAD" "1. Agammaglobulinemia" "BTK deficiency, X-linked agammaglobulinemia (XLA)" "BTK" "XL" 3 "1 / 1 / 13 / 9" "451 / 174 / 369 / 526" "300300" "https://alphafold.ebi.ac.uk/entry/Q06187" "Q06187" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, normal numbers of pro-B cells" "low" "normal" "low" "variable" NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Very low" "Very low" "Variable" NA 451 174 369 526 1 1 13 9 5.92802951215306e-06 5.92802951215306e-06 5.92802951215306e-06 5.92802951215306e-06 5.92802951215306e-06 "3. PAD" "1. Agammaglobulinemia" "Iga deficiency" "CD79A" "AR" 2 "1 / 1 / 48 / 7" "8 / 4 / 151 / 162" "112205" "https://alphafold.ebi.ac.uk/entry/P11912" "P11912" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, normal numbers of pro-B cells" "low" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Very low" "Very low" NA NA 8 4 151 162 1 1 48 7 8.57419602648405e-08 8.57419602648405e-08 8.57419602648405e-08 8.57419602648405e-08 8.57419602648405e-08 "3. PAD" "1. Agammaglobulinemia" "Igb deficiency" "CD79B" "AR" 1 "1 / 0 / 26 / 1" "4 / 2 / 130 / 238" "147245" "https://alphafold.ebi.ac.uk/entry/P40259" "P40259" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, normal numbers of pro-B cells" "low" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Very low" "Very low" NA NA 4 2 130 238 1 0 26 1 1.25580190537866e-08 1.25580190537866e-08 1.25580190537866e-08 1.25580190537866e-08 1.25580190537866e-08 "3. PAD" "1. Agammaglobulinemia" "FNIP1 deficiency" "FNIP1" "AR" 1 "1 / 0 / 53 / 14" "40 / 4 / 305 / 412" NA "https://alphafold.ebi.ac.uk/entry/Q8TF40" "Q8TF40" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Early onset recurrent infections: sinopulmonary, bronchiectasis. Congenital heart defects (eg hypertrophic cardiomyopathy). Crohn disease (one patient, developmental delay." "low" "high" "low" "variable" NA "3. Predominantly Antibody Deficiencies" NA "Increased T cells" "Low B cells" "Very low" "Variable neutropenia" NA 40 4 305 412 1 0 53 14 2.56280432979804e-05 2.56280432979804e-05 2.56280432979804e-05 2.56280432979804e-05 2.56280432979804e-05 "3. PAD" "1. Agammaglobulinemia" "m heavy chain deficiency" "IGHM" "AR" NA NA "11 / 2 / 0 / 6" "147020" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, normal numbers of pro-B cells" "low" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Very low" "Very low" NA NA 11 2 0 6 NA NA NA NA 0 0 0 0 0 "3. PAD" "1. Agammaglobulinemia" "l5 deficiency" "IGLL1" "AR" 1 "1 / 0 / 52 / 22" "0 / 0 / 292 / 204" "146770" "https://alphafold.ebi.ac.uk/entry/P15814" "P15814" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, normal numbers of pro-B cells" "low" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Very low" "Very low" NA NA 0 0 292 204 1 0 52 22 4.33244318764551e-06 4.33244318764551e-06 4.33244318764551e-06 4.33244318764551e-06 4.33244318764551e-06 "3. PAD" "1. Agammaglobulinemia" "PIK3CD deficiency" "PIK3CD" "AR" 3 "1 / 1 / 118 / 13" "18 / 12 / 771 / 1034" NA "https://alphafold.ebi.ac.uk/entry/O00329" "O00329" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections; autoimmune complications (IBD)" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Very low" "Very low" NA NA 18 12 771 1034 1 1 118 13 7.53868463676205e-07 7.53868463676205e-07 7.53868463676205e-07 7.53868463676205e-07 7.53868463676205e-07 "3. PAD" "1. Agammaglobulinemia" "PIK3R1 deficiency" "PIK3R1" "AR" 4 "2 / 1 / 60 / 2" "66 / 42 / 576 / 528" "171833" "https://alphafold.ebi.ac.uk/entry/P27986" "P27986" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe bacterial infections, decreased or absent pro-B cells" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Very low" "Very low" NA NA 66 42 576 528 2 1 60 2 2.89773268065828e-06 2.89893240445582e-06 5.79885919156483e-06 2.89854810633136e-06 3.62399846840815e-06 "3. PAD" "1. Agammaglobulinemia" "SLC39A7 (ZIP7) deficiency" "SLC39A7" "AR" 4 "3 / 1 / 41 / 6" "6 / 8 / 216 / 206" "601416" "https://alphafold.ebi.ac.uk/entry/Q92504" "Q92504" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Very low" "Very low" NA NA 6 8 216 206 3 1 41 6 8.64379947503424e-07 1.72937648353201e-06 3.45809659158547e-06 8.6468589834375e-07 2.80999796172649e-06 "3. PAD" "1. Agammaglobulinemia" "Pu.1 deficiency" "SPI1" "AD" 2 "1 / 1 / 1 / 0" "40 / 6 / 32 / 218" NA "https://alphafold.ebi.ac.uk/entry/P17947" "P17947" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Sinopulmonary infections with encapsulated bacteria. Viral infections in some patients incl paralysis in 1 following live polio vaccine" "decreased" "variable" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal numbers of T and NK cells, increased % CD8s" "Decreased B. B cell development arrested at pro to pre–B stage" "Undetectable" NA "Decreased DC" 40 6 32 218 1 1 1 0 6.5718134919331e-06 6.5718134919331e-06 6.5718134919331e-06 6.5718134919331e-06 6.5718134919331e-06 "3. PAD" "1. Agammaglobulinemia" "E47 transcription factor deficiency" "TCF3" "AD" 2 "1 / 1 / 172 / 37" "30 / 20 / 994 / 1048" "147141" "https://alphafold.ebi.ac.uk/entry/P15923" "P15923" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Recurrent bacterial infections" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Very low" "Very low" NA NA 30 20 994 1048 1 1 172 37 2.66618123865396e-06 2.66618123865396e-06 2.66618123865396e-06 2.66618123865396e-06 2.66618123865396e-06 "3. PAD" "1. Agammaglobulinemia" "E47 transcription factor deficiency" "TCF3" "AR" 2 "1 / 1 / 172 / 37" "30 / 20 / 994 / 1048" NA "https://alphafold.ebi.ac.uk/entry/P15923" "P15923" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Severe, recurrent bacterial infections, failure to thrive" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Very low" "Very low" NA NA 30 20 994 1048 1 1 172 37 2.66618123865396e-06 2.66618123865396e-06 2.66618123865396e-06 2.66618123865396e-06 2.66618123865396e-06 "3. PAD" "1. Agammaglobulinemia" "Hoffman syndrome/TOP2B deficiency" "TOP2B" "AD" 2 "1 / 1 / 93 / 16" "10 / 0 / 946 / 980" "126431" "https://alphafold.ebi.ac.uk/entry/Q02880" "Q02880" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "Recurrent infections, facial dysmorphism, limb anomalies" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Very low" "Very low" NA NA 10 0 946 980 1 1 93 16 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 "3. PAD" "1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia" "PAX5 deficiency" "PAX5" "AR" NA NA "10 / 30 / 183 / 286" NA "https://alphafold.ebi.ac.uk/entry/Q02548" "Q02548" "HP:0002715; HP:0004432" "Abnormality of the immune system; Agammaglobulinemia" 279.04 "D80.0" "autism spectrum disorder (ASD) and sensorimotor and cognitive defects" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Low" "Low" NA NA 10 30 183 286 NA NA NA NA 0 0 0 0 0 "3. PAD" "2. CVID Phenotype" "ARHGEF1 deficiency" "ARHGEF1" "AR" 1 "1 / 0 / 124 / 10" "4 / 0 / 783 / 798" "618459" "https://alphafold.ebi.ac.uk/entry/Q92888" "Q92888" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.04 "D80.0" "Recurrent infections, bronchiectasis" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 4 0 783 798 1 0 124 10 1.7774929903078e-07 1.7774929903078e-07 1.7774929903078e-07 1.7774929903078e-07 1.7774929903078e-07 "3. PAD" "2. CVID Phenotype" "ATP6AP1 deficiency" "ATP6AP1" "XL" 3 "1 / 1 / 19 / 12" "12 / 10 / 259 / 300" "300197" "https://alphafold.ebi.ac.uk/entry/Q15904" "Q15904" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Hepatopathy, leukopenia, low copper" NA NA "variable" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Variable" NA NA 12 10 259 300 1 1 19 12 8.90487544126261e-07 8.90487544126261e-07 8.90487544126261e-07 8.90487544126261e-07 8.90487544126261e-07 "3. PAD" "2. CVID Phenotype" "CD19 deficiency" "CD19" "AR" 2 "1 / 1 / 64 / 5" "19 / 12 / 358 / 362" "107265" "https://alphafold.ebi.ac.uk/entry/P15391" "P15391" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent infections, may have glomerulonephritis" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 19 12 358 362 1 1 64 5 1.06211224916893e-05 1.06211224916893e-05 1.06211224916893e-05 1.06211224916893e-05 1.06211224916893e-05 "3. PAD" "2. CVID Phenotype" "CD20 deficiency" "CD20" "AR" NA NA NA "112210" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent infections" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "2. CVID Phenotype" "CD21 deficiency" "CD21" "AR" NA NA NA "120650" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent infections" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "2. CVID Phenotype" "CD81 deficiency" "CD81" "AR" 1 "1 / 0 / 24 / 1" "2 / 0 / 210 / 324" "186845" "https://alphafold.ebi.ac.uk/entry/P60033" "P60033" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent infections, may have glomerulonephritis" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 2 0 210 324 1 0 24 1 9.80489106304326e-09 9.80489106304326e-09 9.80489106304326e-09 9.80489106304326e-09 9.80489106304326e-09 "3. PAD" "2. CVID Phenotype" "IKAROS haplosufficiency" "IKZF1" "AD" 2 "1 / 1 / 30 / 2" "14 / 32 / 476 / 220" "603023" "https://alphafold.ebi.ac.uk/entry/Q13422" "Q13422" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent sinopulmonary infections" "decreased" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" "haplosufficiency" "Normal" "Declining" "Low" NA NA 14 32 476 220 1 1 30 2 6.56758372027347e-06 1.97065418601367e-05 3.28455e-05 1.31370627902051e-05 2.62760209300684e-05 "3. PAD" "2. CVID Phenotype" "IRF2BP2 deficiency" "IRF2BP2" "AD" 1 "1 / 0 / 96 / 4" "5 / 8 / 816 / 548" "615332" "https://alphafold.ebi.ac.uk/entry/Q7Z5L9" "Q7Z5L9" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent infections, possible autoimmunity and inflammatory disease" NA NA NA NA NA "3. Predominantly Antibody Deficiencies" NA NA NA NA NA NA 5 8 816 548 1 0 96 4 6.56801508016262e-06 6.56801508016262e-06 6.56801508016262e-06 6.56801508016262e-06 6.56801508016262e-06 "3. PAD" "2. CVID Phenotype" "Mannosyl-oligosaccharide glucosidase deficiency (MOGS)" "MOGS" "AR" 6 "4 / 2 / 141 / 17" "41 / 20 / 615 / 454" "601336" "https://alphafold.ebi.ac.uk/entry/Q13724" "Q13724" "HP:0002715; HP:0005403" "Abnormality of the immune system; T lymphocytopenia" 279.06 "D83.9" "Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb) (GCS1)" "normal" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Low" NA NA 41 20 615 454 4 2 141 17 1.07067956793815e-05 1.0711579904059e-05 0.000107062606992169 1.07078470677699e-05 2.67822070449227e-05 "3. PAD" "2. CVID Phenotype" "NFKB1 deficiency" "NFKB1" "AD" 3 "1 / 1 / 86 / 16" "178 / 90 / 683 / 686" "164011" "https://alphafold.ebi.ac.uk/entry/P19838" "P19838" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis" NA NA NA NA NA "3. Predominantly Antibody Deficiencies" NA NA NA NA NA NA 178 90 683 686 1 1 86 16 6.56844649671906e-06 6.56844649671906e-06 6.56844649671906e-06 6.56844649671906e-06 6.56844649671906e-06 "3. PAD" "2. CVID Phenotype" "NFKB2 deficiency" "NFKB2" "AD" 2 "1 / 1 / 75 / 7" "16 / 14 / 706 / 776" "615577" "https://alphafold.ebi.ac.uk/entry/Q00653" "Q00653" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent sinopulmonary infections, alopecia and endorinopathies" NA NA NA NA NA "3. Predominantly Antibody Deficiencies" NA NA NA NA NA NA 16 14 706 776 1 1 75 7 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 "3. PAD" "2. CVID Phenotype" "PIK3CD mutation (GOF) APDS1" "PIK3CD" "AD" 3 "1 / 1 / 118 / 13" "18 / 12 / 771 / 1034" "602839" "https://alphafold.ebi.ac.uk/entry/O00329" "O00329" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Severe bacterial infections, EBV ± CMV viremia, autoimmunity, lymphadenopathy/splenomegaly,lymphoproliferation, lymphoma" "variable" NA "defective" NA NA "3. Predominantly Antibody Deficiencies" "GOF" NA "increased immature B cells, reduced memory B cells and increased transitional B cells" "Normal/increased IgM, reduced IgG and IgA" NA NA 18 12 771 1034 1 1 118 13 7.53868463676205e-07 7.53868463676205e-07 7.53868463676205e-07 7.53868463676205e-07 7.53868463676205e-07 "3. PAD" "2. CVID Phenotype" "PIK3CG deficiency" "PIK3CG" "AR" 2 "2 / 0 / 19 / 8" "6 / 0 / 116 / 56" NA "https://alphafold.ebi.ac.uk/entry/P48736" "P48736" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Adenopathy, splenomegaly, HLH-like" "borderline" "mixed" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal CD4 but low Treg, low CD8, poor proliferation" "Normal but diminished memory" "Low with preserved vaccine resposnes" NA "Eosinophilia" 6 0 116 56 2 0 19 8 1.66798426959736e-06 2.50334187337534e-06 3.33869947715331e-06 2.08566307148635e-06 2.92102067526432e-06 "3. PAD" "2. CVID Phenotype" "PIK3R1 deficiency (LOF) APDS2" "PIK3R1" "AD" 4 "2 / 1 / 60 / 2" "66 / 42 / 576 / 528" "616005" "https://alphafold.ebi.ac.uk/entry/P27986" "P27986" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Severe bacterial infections, lymphadenopathy/splenomegaly,lymphoproliferation, lymphoma; developmental delay" "variable" NA "defective" NA NA "3. Predominantly Antibody Deficiencies" NA NA "increased immature B cells, reduced memory B cells and increased transitional B cells" "Normal/increased IgM, reduced IgG and IgA" NA NA 66 42 576 528 2 1 60 2 2.89773268065828e-06 2.89893240445582e-06 5.79885919156483e-06 2.89854810633136e-06 3.62399846840815e-06 "3. PAD" "2. CVID Phenotype" "POU2AF1 deficiency" "POU2AF1" "AR" 0 "0 / 0 / 4 / 1" "0 / 0 / 30 / 30" NA "https://alphafold.ebi.ac.uk/entry/Q16633" "Q16633" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent respiratory infections, possible chronic viral infection" "borderline" "mixed" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal numbers T cells, decreased cTfh cells" "Normal B cell numbers, decreased switched memory B cells, and altered B cell phenotype" "Agammaglobulinemia" NA NA 0 0 30 30 0 0 4 1 0 0 0 0 0 "3. PAD" "2. CVID Phenotype" "PTEN Deficiency (LOF)" "PTEN" "AD" 4 "2 / 1 / 38 / 1" "1692 / 473 / 3526 / 1493" "601728" "https://alphafold.ebi.ac.uk/entry/P60484" "P60484" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent infections, Lymphoproliferation, Autoimmunity; developmental delay" NA NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Normal to low" NA NA 1692 473 3526 1493 2 1 38 1 6.56996e-06 6.574755e-06 6.58181e-06 6.57281e-06 6.577265e-06 "3. PAD" "2. CVID Phenotype" "RAC2 deficiency" "RAC2" "AR" 3 "1 / 1 / 15 / 1" "8 / 2 / 136 / 228" "602049" "https://alphafold.ebi.ac.uk/entry/P15153" "P15153" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Recurrent sinopulmonary infections, selective IgA defiency; poststreptococcal glomerulonephritis; urticaria" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 8 2 136 228 1 1 15 1 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 "3. PAD" "2. CVID Phenotype" "SEC61A1 deficiency" "SEC61A1" "AD" 2 "1 / 1 / 13 / 1" "10 / 6 / 205 / 364" "609213" "https://alphafold.ebi.ac.uk/entry/P61619" "P61619" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Severe recurrent respiratory tract infections" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 10 6 205 364 1 1 13 1 6.56715241704045e-06 6.56715241704045e-06 6.56715241704045e-06 6.56715241704045e-06 6.56715241704045e-06 "3. PAD" "2. CVID Phenotype" "SH3KBP1 (CIN85) deficiency" "SH3KBP1" "XL" 0 "0 / 0 / 35 / 7" "1 / 0 / 290 / 352" "300310" "https://alphafold.ebi.ac.uk/entry/Q96B97" "Q96B97" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Severe bacterial infections" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 1 0 290 352 0 0 35 7 0 0 0 0 0 "3. PAD" "2. CVID Phenotype" "TACI deficiency" "TNFRSF13B" "AD/AR" 10 "7 / 1 / 100 / 6" "49 / 7 / 399 / 244" "604907" "https://alphafold.ebi.ac.uk/entry/O14836" "O14836" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Variable clinical expression" NA NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Normal to low" NA NA 49 7 399 244 7 1 100 6 2.31830235250752e-06 1.6226421279239e-05 5.56275371915221e-05 2.31944302266858e-06 1.85504585889056e-05 "3. PAD" "2. CVID Phenotype" "BAFF receptor deficiency" "TNFRSF13C" "AR" 1 "0 / 1 / 20 / 0" "2 / 2 / 230 / 138" "606269" "https://alphafold.ebi.ac.uk/entry/Q96RJ3" "Q96RJ3" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Variable clinical expression" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low" NA NA 2 2 230 138 0 1 20 0 9.41596217537074e-07 9.41596217537074e-07 9.41596217537074e-07 9.41596217537074e-07 9.41596217537074e-07 "3. PAD" "2. CVID Phenotype" "TWEAK deficiency" "TNFSF12" "AD" 0 "0 / 0 / 42 / 0" "0 / 0 / 274 / 218" "602695" "https://alphafold.ebi.ac.uk/entry/O43508" "O43508" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Pneumonia, bacterial infections, warts, thrombocytopenia." NA NA "defective" "low" NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low IgM and A, lack of anti-pneumococcal antibody" "Low" NA 0 0 274 218 0 0 42 0 0 0 0 0 0 "3. PAD" "2. CVID Phenotype" "TRNT1 deficiency" "TRNT1" "AR" 8 "5 / 1 / 88 / 5" "134 / 11 / 568 / 474" "612907" "https://alphafold.ebi.ac.uk/entry/Q96Q11" "Q96Q11" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "congenital sideroblastic anemia, deafness, developmental delay" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Low" "Low" NA NA 134 11 568 474 5 1 88 5 1.21075662179245e-05 6.06362122714464e-05 0.000145371901435539 1.21158801463803e-05 7.57380275886757e-05 "3. PAD" "2. CVID Phenotype" "Common variable immune deficiency with no gene defect specified (CVID)" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Clinical phenotypes vary: most have recurrent infections, some have polyclonal lymphoproliferation, autoimmune cytopenias and/or granulomatous disease" "variable" "variable" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Variable" "Variable" "Low IgG and IgA and/or IgM" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype" "KARS1 deficiency" "KARS1" "AR" NA NA "34 / 20 / 444 / 412" "619147" "https://alphafold.ebi.ac.uk/entry/Q15046" "Q15046" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.06 "D83.9" "Fewer mitochondria in B cells, deafness, developmental delay, ADEM, neurologic disease" "low" NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Low" "Low" NA NA 34 20 444 412 NA NA NA NA 0 0 0 0 0 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "AID deficiency" "AICDA" "AD" 8 "4 / 3 / 20 / 2" "33 / 28 / 269 / 202" "605257*" "https://alphafold.ebi.ac.uk/entry/Q9GZX7" "Q9GZX7" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Bacterial infections, enlarged lymph nodes and germinal centers" "normal" NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA "Normal" "Low IgG and IgA with normal or high IgM" NA NA 33 28 269 202 4 3 20 2 6.28510849898825e-08 1.29014781849201e-07 1.66667864392196e-06 6.28645690190765e-08 1.88367593795978e-07 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "AID deficiency" "AICDA" "AR" 8 "4 / 3 / 20 / 2" "33 / 28 / 269 / 202" "605257" "https://alphafold.ebi.ac.uk/entry/Q9GZX7" "Q9GZX7" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Bacterial infections, enlarged lymph nodes and germinal centers" NA NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low IgG and IgA with normal or high IgM" NA NA 33 28 269 202 4 3 20 2 6.28510849898825e-08 1.29014781849201e-07 1.66667864392196e-06 6.28645690190765e-08 1.88367593795978e-07 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "CTNNBL1 deficiency" "CTNNBL1" "AR" 1 "1 / 0 / 6 / 2" "2 / 0 / 58 / 14" NA "https://alphafold.ebi.ac.uk/entry/Q8WYA6" "Q8WYA6" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Hyperplastic GC" "borderline" "low" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Low, poor proliferation" "Normal with low memory cells" "Progressive hypogammaglobulinemia, impaired CSR, SHM" NA NA 2 0 58 14 1 0 6 2 7.46292554818e-08 7.46292554818e-08 7.46292554818e-08 7.46292554818e-08 7.46292554818e-08 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "INO80" "INO80" "AR" 2 "0 / 2 / 26 / 5" "0 / 4 / 186 / 74" "610169" "https://alphafold.ebi.ac.uk/entry/Q9ULG1" "Q9ULG1" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Severe bacterial infections" NA NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low IgG and IgA with normal or high IgM" NA NA 0 4 186 74 0 2 26 5 2.96205453130293e-06 3.06480840091491e-05 5.83341134869952e-05 1.6805069270226e-05 4.44910987480721e-05 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "MSH6" "MSH6" "AR" 22 "13 / 4 / 598 / 35" "3295 / 403 / 10641 / 4390" "600678" "https://alphafold.ebi.ac.uk/entry/P52701" "P52701" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Family or personal history of cancer" NA NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low IgG and IgA with normal or high IgM" NA NA 3295 403 10641 4390 13 4 598 35 2.90015225038157e-06 2.90274824407729e-06 8.70991459185243e-06 2.90114561532535e-06 5.80446305483892e-06 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "TNFSF13 (APRIL) deficiency" "TNFSF13" "AR" 0 "0 / 0 / 2 / 1" "0 / 0 / 13 / 10" NA "https://alphafold.ebi.ac.uk/entry/O75888" "O75888" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Mild infections" "borderline" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal B cell count with low memory B cells and plasmablasts" "Low IgG" NA NA 0 0 13 10 0 0 2 1 0 0 0 0 0 "3. PAD" "3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM" "UNG deficiency" "UNG" "AR" 2 "1 / 1 / 41 / 4" "30 / 14 / 298 / 260" "191525" "https://alphafold.ebi.ac.uk/entry/P13051" "P13051" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.05 "D80.5" "Enlarged lymph nodes and germinal centers" NA NA "mixed" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low IgG and IgA with normal or high IgM" NA NA 30 14 298 260 1 1 41 4 6.5077624023916e-08 1.30067474368803e-07 1.95057324713689e-07 9.75725491963593e-08 1.62562399541246e-07 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Ig heavy chain mutations and deletions" "14q32 deletion or mutation" "AR" NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0010701" "Abnormality of the immune system; Abnormal immunoglobulin level" 279 "D80.3" "May be asymptomatic" "normal" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Low" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "CARD11 GOF" "CARD11" "AD" 4 "3 / 1 / 124 / 39" "46 / 40 / 1024 / 1220" "607210" "https://alphafold.ebi.ac.uk/entry/Q9BXL7" "Q9BXL7" "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279.03 "D80.9" "Splenomegaly, lymphadenopathy, poor vaccine response" "high" NA NA NA NA "3. Predominantly Antibody Deficiencies" "GOF" NA "High" NA NA NA 46 40 1024 1220 3 1 124 39 6.30519999222552e-07 6.30615495623916e-07 6.30802169488339e-07 6.3057614534813e-07 6.30677640265467e-07 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Kappa chain deficiency" "IGKC" "AR" NA NA "4 / 0 / 8 / 0" "147200" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0010701" "Abnormality of the immune system; Abnormal immunoglobulin level" 279.03 "D80.3" "Asymptomatic" "normal" "normal" NA NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" NA NA NA 4 0 8 0 NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "IgG subclass deficiency with IgA deficiency" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0032135" "Abnormality of the immune system; Decreased circulating IgG subclass level" 279.03 "D80.3" "Recurrent bacterial infections" "normal" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Variable total IgG with low IgA" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Selective IgM deficiency" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0010701" "Abnormality of the immune system; Abnormal immunoglobulin level" 279.02 "D80.4" "Pneumococcal / bacterial infections" NA NA "low" NA NA "3. Predominantly Antibody Deficiencies" NA NA NA "Low IgM" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Isolated IgG subclass deficiency" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0032135" "Abnormality of the immune system; Decreased circulating IgG subclass level" 279.03 "D80.3" "Usually asymptomatic, a minority may have poor antibody response to specific antigens and recurrent viral/bacterial infections" "normal" "normal" "variable" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Variable" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Transient hypogammaglobuliemia of infancy" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0004313" "Abnormality of the immune system; Decreased circulating antibody level" 279 "D80.7" "Normal ability to produce antibodies to vaccine antigens, usually not associated with significant infections" "normal" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Low" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Specific antibody deficiency with normal Ig levels and normal B cells" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0012475" "Abnormality of the immune system; Decreased circulating level of specific antibody" 279.03 "D80.6" "Reduced ability to produce antibodies to specific antigens" "normal" "normal" "normal" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Normal" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "3. PAD" "4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells" "Selective IgA deficiency" NA NA NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0002720" "Abnormality of the immune system; Decreased circulating IgA level" 279.01 "D80.2" "Bacterial infections, autoimmunity mildly increased" "normal" "normal" "low" NA NA "3. Predominantly Antibody Deficiencies" NA "Normal" "Normal" "Low IgA" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "DPP9 deficiency" "DPP9" "AR" NA NA "4 / 2 / 170 / 38" "620331" "https://alphafold.ebi.ac.uk/entry/Q86TI2" "Q86TI2" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Abnormal skin pigment, short stature, recurrent infections" NA NA NA NA NA "4. Diseases of Immune Dysregulation" NA NA NA NA NA "NLRP1 activation, pancytopenia," 4 2 170 38 NA NA NA NA 0 0 0 0 0 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "FAAP24 deficiency" "FAAP24" "AR" 0 "0 / 0 / 6 / 3" "0 / 0 / 36 / 30" "610884" "https://alphafold.ebi.ac.uk/entry/Q9BTP7" "Q9BTP7" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "EBV infection-driven lymphoproliferative disease" "normal" "high" NA NA NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" NA NA NA 0 0 36 30 0 0 6 3 0 0 0 0 0 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "Perforin deficiency (FHL2)" "PRF1" "AR" 20 "9 / 4 / 135 / 4" "122 / 76 / 631 / 522" "170280" "https://alphafold.ebi.ac.uk/entry/P14222" "P14222" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias" "normal" "high" "normal" "defective" NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" "Normal" "Neutropenia with active HLH" NA 122 76 631 522 9 4 135 4 1.01764440083949e-06 2.03539461253849e-06 1.11927282252636e-05 1.0179519324688e-06 4.07182253308012e-06 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "RHOG deficiency" "RHOG" "AR" 0 "0 / 0 / 1 / 0" "0 / 0 / 14 / 2" NA "https://alphafold.ebi.ac.uk/entry/P84095" "P84095" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Clinical features of HLH (hemophagocytosis, hepatosplenomegaly, fever, cytopenias, low hemoglobin, hyper-triglyceridemia, elevated ferritin/sCD25" NA NA NA NA NA "4. Diseases of Immune Dysregulation" NA NA NA NA NA NA 0 0 14 2 0 0 1 0 0 0 0 0 0 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "Lysinuric protein intolerance SLC7A7 deficiency" "SLC7A7" "AR" 8 "4 / 2 / 100 / 2" "131 / 124 / 571 / 818" "222700" "https://alphafold.ebi.ac.uk/entry/Q9UM01" "Q9UM01" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Lysinuric protein intolerance, bleeding tendency, alveolar proteinosis" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA "Activated macrophages" 131 124 571 818 4 2 100 2 2.46687387287048e-07 3.70022257366822e-07 1.2712739406708e-05 2.46720607763564e-07 7.39762796907833e-07 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "Syntaxin 11 deficiency (FHL4)" "STX11" "AR" 2 "1 / 1 / 58 / 4" "31 / 24 / 445 / 314" "605014" "https://alphafold.ebi.ac.uk/entry/O75558" "O75558" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Fever, HSM, cHLH, cytopenias," "normal" "high" "normal" "defective" NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" "Normal" "Neutropenia with active HLH" NA 31 24 445 314 1 1 58 4 7.25612820566199e-07 7.25612820566199e-07 7.25612820566199e-07 7.25612820566199e-07 7.25612820566199e-07 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "STXBP2 / Munc18-2 deficiency (FHL5)" "STXBP2" "AR" 6 "2 / 2 / 160 / 11" "83 / 90 / 840 / 1274" "601717" "https://alphafold.ebi.ac.uk/entry/Q15833" "Q15833" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Fever, HSM, cHLH, cytopenias, enteropathy" "normal" "high" "normal" "defective" NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" "Normal" "Neutropenia with active HLH" NA 83 90 840 1274 2 2 160 11 1.91613612581688e-05 5.75017150586472e-05 0.000306560180948167 1.91705492481763e-05 0.000220377680073602 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "STXBP2 / Munc18-2 deficiency (FHL5)" "STXBP2" "AD" 6 "2 / 2 / 160 / 11" "83 / 90 / 840 / 1274" "601717" "https://alphafold.ebi.ac.uk/entry/Q15833" "Q15833" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Fever, HSM, cHLH, cytopenias, enteropathy" "normal" "high" "normal" "defective" NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" "Normal" "Neutropenia with active HLH" NA 83 90 840 1274 2 2 160 11 1.91613612581688e-05 5.75017150586472e-05 0.000306560180948167 1.91705492481763e-05 0.000220377680073602 "4. PIRD" "1. Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)" "UNC13D / Munc13-4 deficiency (FHL3)" "UNC13D" "AR" 19 "12 / 4 / 269 / 10" "214 / 92 / 1242 / 1714" "608897" "https://alphafold.ebi.ac.uk/entry/Q70J99" "Q70J99" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Fever, HSM, HLH, cytopenias" "normal" "high" "normal" "defective" NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" "Normal" "Neutropenia with active HLH" NA 214 92 1242 1714 12 4 269 10 8.37821466821295e-06 8.38845686925151e-06 7.53958259675635e-05 8.38244930178367e-06 2.51467698996379e-05 "4. PIRD" "2. FHL Syndromes with Hypopigmentation" "Hermansky-Pudlak syndrome, type 2" "AP3B1" "AR" 2 "1 / 1 / 145 / 5" "69 / 58 / 894 / 712" "603401" "https://alphafold.ebi.ac.uk/entry/O00203" "O00203" "HP:0002715; HP:0005599; HP:0012156" "Abnormality of the immune system; Hypopigmentation of hair; Hemophagocytosis" 288.4 "D76.1" "Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, HLH" "normal" "normal" NA "low" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA "Low" NA 69 58 894 712 1 1 145 5 1.24230600951316e-05 1.2435936844068e-05 1.24488135930043e-05 1.24294984695998e-05 1.24423752185361e-05 "4. PIRD" "2. FHL Syndromes with Hypopigmentation" "Hermansky-Pudlak syndrome, type 10" "AP3D1" "AR" 0 "0 / 0 / 173 / 17" "2 / 6 / 1152 / 1480" "617050" "https://alphafold.ebi.ac.uk/entry/O14617" "O14617" "HP:0002715; HP:0005599; HP:0012156" "Abnormality of the immune system; Hypopigmentation of hair; Hemophagocytosis" 288.4 "D76.1" "Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay" "normal" "normal" NA "low" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA "Low" NA 2 6 1152 1480 0 0 173 17 0 0 0 0 0 "4. PIRD" "2. FHL Syndromes with Hypopigmentation" "GIMAP6 deficiency" "GIMAP6" "AR" 1 "0 / 1 / 10 / 4" "0 / 2 / 60 / 16" "616960" "https://alphafold.ebi.ac.uk/entry/Q6P9H5" "Q6P9H5" "HP:0002715; HP:0012156" "Abnormality of the immune system; Hemophagocytosis" 288.4 "D76.1" "Adenopathy, splenomegaly, vasculitis, autoantibodies" "normal" "decreased" "high" NA NA "4. Diseases of Immune Dysregulation" NA "Decreased naïve T cells" "Normal" "High IgM" NA "Reduced NK cytotoxicity" 0 2 60 16 0 1 10 4 9.25936086169421e-07 9.25936086169421e-07 9.25936086169421e-07 9.25936086169421e-07 9.25936086169421e-07 "4. PIRD" "2. FHL Syndromes with Hypopigmentation" "Chediak-Higashi syndrome" "LYST" "AR" 12 "9 / 1 / 628 / 28" "250 / 205 / 3424 / 3540" "606897" "https://alphafold.ebi.ac.uk/entry/Q99698" "Q99698" "HP:0002715; HP:0005599; HP:0012156" "Abnormality of the immune system; Hypopigmentation of hair; Hemophagocytosis" 288.4 "D76.1" "Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction" "normal" "high" NA "low" NA "4. Diseases of Immune Dysregulation" NA "Increased activated T cells" "Normal" NA "Low" NA 250 205 3424 3540 9 1 628 28 4.10569867045753e-06 4.11145548897799e-06 1.23249626089827e-05 4.10807703035892e-06 8.22076491297901e-06 "4. PIRD" "2. FHL Syndromes with Hypopigmentation" "Griscelli syndrome, type 2" "RAB27A" "AR" 5 "3 / 1 / 41 / 1" "77 / 32 / 290 / 232" "603868" "https://alphafold.ebi.ac.uk/entry/P51159" "P51159" "HP:0002715; HP:0005599; HP:0012156" "Abnormality of the immune system; Hypopigmentation of hair; Hemophagocytosis" 288.4 "D76.1" "Partial albinism, fever, HSM, HLH, cytopenias" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA NA 77 32 290 232 3 1 41 1 3.26811045395686e-08 3.27186688305181e-08 2.91271470445537e-07 3.26811045395686e-08 1.30244947065862e-07 "4. PIRD" "3. Regulatory T Cell Defects" "BACH2 deficiency" "BACH2" "AD" 1 "1 / 0 / 84 / 12" "2 / 0 / 583 / 420" "605394" "https://alphafold.ebi.ac.uk/entry/Q9BYV9" "Q9BYV9" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Lymphocytic colitis, sinopulmonary infections" "defective" "low" "low" "normal" NA "4. Diseases of Immune Dysregulation" NA "Progressive T cell lymphopenia" "Impaired memory B cell development" "Low" "Normal" NA 2 0 583 420 1 0 84 12 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 "4. PIRD" "3. Regulatory T Cell Defects" "CTLA4 deficiency (ALPSV)" "CTLA4" "AD" 3 "1 / 1 / 23 / 3" "63 / 36 / 269 / 144" "123890" "https://alphafold.ebi.ac.uk/entry/P16410" "P16410" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections" "decreased" "decreased" "variable" "normal" NA "4. Diseases of Immune Dysregulation" NA "Decreased" "Decreased" "Variable" "Normal" NA 63 36 269 144 1 1 23 3 6.56913688110519e-06 6.56913688110519e-06 6.57108e-06 6.56913688110519e-06 6.5701084405526e-06 "4. PIRD" "3. Regulatory T Cell Defects" "DEF6 deficiency" "DEF6" "AR" 1 "1 / 0 / 54 / 6" "14 / 2 / 278 / 402" "610094" "https://alphafold.ebi.ac.uk/entry/Q9H4E7" "Q9H4E7" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections" "borderline" "decreased" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Mild decrease" "Low to normal" "Normal" "Normal" "Impaired Treg function" 14 2 278 402 1 0 54 6 1.225831522942e-05 1.225831522942e-05 1.225831522942e-05 1.225831522942e-05 1.225831522942e-05 "4. PIRD" "3. Regulatory T Cell Defects" "FERMT1 deficiency (Kindler syndrome)" "FERMT1" "AR" 6 "5 / 1 / 86 / 12" "75 / 24 / 520 / 532" "173650" "https://alphafold.ebi.ac.uk/entry/Q9BQL6" "Q9BQL6" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA "Skin" 75 24 520 532 5 1 86 12 8.2138954106484e-06 5.33890836466919e-05 0.000147947677429047 2.46628671204961e-05 6.98109447755578e-05 "4. PIRD" "3. Regulatory T Cell Defects" "IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked" "FOXP3" "XL" 5 "1 / 2 / 31 / 26" "58 / 40 / 358 / 300" "300292" "https://alphafold.ebi.ac.uk/entry/Q9BZS1" "Q9BZS1" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D82.9" "Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema" "normal" "normal" "high" NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "High IgE and IgA" NA NA 58 40 358 300 1 2 31 26 7.30315652496208e-08 7.37727096111031e-08 1.46850686908763e-07 7.34021374303619e-08 1.10311698259933e-07 "4. PIRD" "3. Regulatory T Cell Defects" "Ikaros GOF" "IKZF1" "AD" 2 "1 / 1 / 30 / 2" "14 / 32 / 476 / 220" NA "https://alphafold.ebi.ac.uk/entry/Q13422" "Q13422" NA NA NA NA "Autoimmunity, allergy, lymphoprolfieration, infections" "normal" NA "low" NA NA "4. Diseases of Immune Dysregulation" "GOF" NA "Normal" "Mild decrease" NA NA 14 32 476 220 1 1 30 2 6.56758372027347e-06 1.97065418601367e-05 3.28455e-05 1.31370627902051e-05 2.62760209300684e-05 "4. PIRD" "3. Regulatory T Cell Defects" "CD25 deficiency" "IL2RA" "AR" 2 "1 / 1 / 55 / 2" "18 / 8 / 363 / 274" "147730" "https://alphafold.ebi.ac.uk/entry/P01589" "P01589" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Lymphoproliferation, autoimmunity, impaired T cell proliferation" "normal" "mixed" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal to decreased" "Normal" NA NA NA 18 8 363 274 1 1 55 2 9.70448058347507e-08 9.70514964008958e-08 9.70581869670409e-08 9.70481511178233e-08 9.70548416839683e-08 "4. PIRD" "3. Regulatory T Cell Defects" "CD122 deficiency" "IL2RB" "AR" 2 "1 / 1 / 74 / 13" "15 / 12 / 373 / 450" "618495" "https://alphafold.ebi.ac.uk/entry/P14784" "P14784" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections" "high" "variable" "high" NA NA "4. Diseases of Immune Dysregulation" NA "Increased memory CD8 T cells, decreased Tregs" "Increased memory B cells" "High" NA "Poor NK function" 15 12 373 450 1 1 74 13 2.83163317066296e-06 2.83229406515837e-06 2.83295495965379e-06 2.83196361791067e-06 2.83262451240608e-06 "4. PIRD" "3. Regulatory T Cell Defects" "LRBA deficiency" "LRBA" "AR" 9 "4 / 3 / 438 / 31" "198 / 116 / 2208 / 1886" "606453" "https://alphafold.ebi.ac.uk/entry/P50851" "P50851" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections" "borderline" "mixed" "variable" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal or decreased CD4 numbers, T cell dysregulation" "Low or normal numbers of B cells" "Variable" "Normal" NA 198 116 2208 1886 4 3 438 31 9.25234790444923e-06 9.26403151139648e-06 1.85286520729273e-05 9.25623305569035e-06 9.49255157427501e-06 "4. PIRD" "3. Regulatory T Cell Defects" "NBEAL2 deficiency" "NBEAL2" "AR" NA NA "64 / 74 / 952 / 248" "139090" "https://alphafold.ebi.ac.uk/entry/Q6ZNJ1" "Q6ZNJ1" NA NA NA NA "Splenomegaly, EBV, HLH" NA "mixed" NA NA NA "4. Diseases of Immune Dysregulation" NA "Low CTLA4, normal Treg counts" NA NA NA "Grety platelet syndrome" 64 74 952 248 NA NA NA NA 0 0 0 0 0 "4. PIRD" "3. Regulatory T Cell Defects" "STAT3 GOF" "STAT3" "AD" 3 "1 / 1 / 29 / 15" "88 / 84 / 676 / 796" "102582" "https://alphafold.ebi.ac.uk/entry/P40763" "P40763" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Lymphoproliferation, solid organ autoimmunity, recurrent infections" "decreased" "decreased" "normal" "normal" NA "4. Diseases of Immune Dysregulation" "GOF" "Decreased" "Decreased" "Normal" "Normal" NA 88 84 676 796 1 1 29 15 6.5681876399845e-06 6.56987e-06 6.57652e-06 6.56902881999225e-06 6.573195e-06 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy" "AIRE" "AR" 26 "9 / 8 / 137 / 17" "204 / 160 / 802 / 1260" "607358" "https://alphafold.ebi.ac.uk/entry/O43918" "O43918" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia" "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 204 160 802 1260 9 8 137 17 2.80559220486216e-06 2.81174458401865e-06 0.000240978124204 2.806959993461e-06 1.122542979501e-05 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy" "AIRE" "AD" 26 "9 / 8 / 137 / 17" "204 / 160 / 802 / 1260" "607358" "https://alphafold.ebi.ac.uk/entry/O43918" "O43918" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia" "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 204 160 802 1260 9 8 137 17 2.80559220486216e-06 2.81174458401865e-06 0.000240978124204 2.806959993461e-06 1.122542979501e-05 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "ARPC5 deficiency" "ARPC5" "AR" 0 "0 / 0 / 1 / 0" "4 / 0 / 18 / 2" "620565" "https://alphafold.ebi.ac.uk/entry/O15511" "O15511" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Severe infections, autoimmunity, some dysmorphic features" "high" "low" "normal" NA NA "4. Diseases of Immune Dysregulation" NA "Low-normal CD4" "increased" "Normal" NA "Increased NKT cells, neutrophils" 4 0 18 2 0 0 1 0 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "CBLB deficiency" "CBLB" "AR" 0 "0 / 0 / 21 / 2" "6 / 0 / 124 / 42" "620430" "https://alphafold.ebi.ac.uk/entry/Q13191" "Q13191" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Autoimmune polyendocrinopathy" "normal" "high" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal, hyperproliferative" "Normal" NA NA NA 6 0 124 42 0 0 21 2 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "PD-L1 deficiency" "CD274" "AR" NA NA "0 / 0 / 8 / 12" NA "https://alphafold.ebi.ac.uk/entry/Q9NZQ7" "Q9NZQ7" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Neonatal onset autoimmunity" "low" "defective" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal with high DR" "Low switched memory B cells" NA NA "Low MAITs" 0 0 8 12 NA NA NA NA 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "IRE1a deficiency" "ERN1" "AD" NA NA "0 / 0 / 122 / 16" NA "https://alphafold.ebi.ac.uk/entry/O75460" "O75460" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Systemic autoimmunity, pleomorphic autoimmunity with autoantibodies" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA NA 0 0 122 16 NA NA NA NA 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "GIMAP5 deficiency" "GIMAP5" "AR" NA NA "0 / 0 / 2 / 4" NA "https://alphafold.ebi.ac.uk/entry/Q96F15" "Q96F15" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Splenomegaly, autoimmunity" NA "mixed" NA NA NA "4. Diseases of Immune Dysregulation" NA "Low CD4, CD8 T cells, increased TH17 and Th2, poor T cell proliferation" NA NA NA NA 0 0 2 4 NA NA NA NA 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "ITCH deficiency" "ITCH" "AR" 2 "1 / 1 / 60 / 5" "26 / 11 / 376 / 524" "606409" "https://alphafold.ebi.ac.uk/entry/Q96J02" "Q96J02" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features" NA NA "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Not assessed" "Not assessed" "Normal" "Normal" NA 26 11 376 524 1 1 60 5 6.03933132579134e-08 6.03933132579134e-08 6.03933132579134e-08 6.03933132579134e-08 6.03933132579134e-08 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "JAK1 GOF" "JAK1" "AD" 2 "1 / 1 / 67 / 10" "4 / 4 / 632 / 764" "147795" "https://alphafold.ebi.ac.uk/entry/P23458" "P23458" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections" NA NA NA NA NA "4. Diseases of Immune Dysregulation" "GOF" "Not assessed" "Not assessed" NA NA "Eosinophilia" 4 4 632 764 1 1 67 10 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "LACC1 deficiency" "LACC1" "AR" 2 "1 / 0 / 6 / 3" "10 / 6 / 70 / 10" "618795" "https://alphafold.ebi.ac.uk/entry/Q8IV20" "Q8IV20" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "JIA" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA NA 10 6 70 10 1 0 6 3 3.65621133030901e-06 3.65872589283882e-06 3.66124045536863e-06 3.65746861157392e-06 3.65998317410373e-06 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "NFAT1 deficiency" "NFATC2" "AR" NA NA "2 / 2 / 152 / 30" "620232" "https://alphafold.ebi.ac.uk/entry/Q13469" "Q13469" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Joint contractures, osteochondromas, B cell lymphoma. EBV driven lymphoproliferation, hypogamglobulinemia" "low" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Low class switched B cells" NA NA NA 2 2 152 30 NA NA NA NA 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "PD1 deficiency" "PDCD1" "AR" 0 "0 / 0 / 3 / 1" "0 / 0 / 15 / 44" NA "https://alphafold.ebi.ac.uk/entry/Q15116" "Q15116" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Tuberculosis, autoimmunity (T1D, hypothyroidism and JIA), fatal pulmonary autoimmunity, hepatosplenomegaly" "normal" "low" "high" NA NA "4. Diseases of Immune Dysregulation" NA "mild lymphopenia but mostly intact. Increased CD4-CD8- DN T cells, Decreased Vd2+ gd T, MAIT and CD56hi NK cells" "Normal" "high serum IgG, IgA; normal IgM, IgE. Anti-insulin autoantibody" NA NA 0 0 15 44 0 0 3 1 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "Prolidase deficiency" "PEPD" "AR" 7 "3 / 1 / 132 / 13" "84 / 51 / 518 / 866" "613230" "https://alphafold.ebi.ac.uk/entry/P12955" "P12955" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Autoantibodies common, chronic skin ulcers, eczema, infections" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA NA 84 51 518 866 3 1 132 13 4.63500376805259e-06 2.78046927003096e-05 3.70736910070179e-05 1.62209995160388e-05 3.24469162475775e-05 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "PLCG1 GOF disease" "PLCG1" "AD" NA NA "2 / 0 / 134 / 16" "620514" "https://alphafold.ebi.ac.uk/entry/P19174" "P19174" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "ALPS-like" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" "GOF" "Normal" "Normal" NA NA "Type I interferon signature" 2 0 134 16 NA NA NA NA 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "SH2B3 deficiency" "SH2B3" "AR" NA NA "6 / 4 / 286 / 216" "605093" "https://alphafold.ebi.ac.uk/entry/Q9UQQ2" "Q9UQQ2" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "ALPS-like, pleomorphic autoimmunity" NA NA NA NA NA "4. Diseases of Immune Dysregulation" NA NA NA NA NA NA 6 4 286 216 NA NA NA NA 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "SOCS1 deficiency" "SOCS1" "AD" 2 "0 / 1 / 12 / 1" "8 / 11 / 106 / 16" NA "https://alphafold.ebi.ac.uk/entry/O15524" "O15524" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Multisystem autoimmunity, SLE features, psoriasis, MIS-C with COVID, type I IFN signature" "borderline" "low" "low" NA NA "4. Diseases of Immune Dysregulation" "Haplosufficiency" "Low CD4/CD8" "Normal B cell numbers but low memory" "Low immunogobulins" NA NA 8 11 106 16 0 1 12 1 6.57051808535103e-06 6.57051808535103e-06 6.57051808535103e-06 6.57051808535103e-06 6.57051808535103e-06 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "TLR7 deficiency" "TLR7" "AD" 1 "1 / 0 / 29 / 7" "8 / 0 / 290 / 240" "301080" "https://alphafold.ebi.ac.uk/entry/Q9NYK1" "Q9NYK1" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Childhood onset SLE, other autoimmunity" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" "GOF" "Normal" "Normal" NA NA NA 8 0 290 240 1 0 29 7 3.38655287791321e-06 3.38655287791321e-06 3.38655287791321e-06 3.38655287791321e-06 3.38655287791321e-06 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "Tripeptidyl-Peptidase II Deficiency" "TPP2" "AR" 2 "1 / 1 / 102 / 6" "31 / 6 / 599 / 828" "190470" "https://alphafold.ebi.ac.uk/entry/P29144" "P29144" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Variable lymphoproliferation, severe autoimmune cytopenias, recurrent infections" "decreased" "decreased" "high" NA NA "4. Diseases of Immune Dysregulation" NA "Decreased" "Decreased" "High" NA NA 31 6 599 828 1 1 102 6 1.34944736711397e-07 1.34944736711397e-07 1.34944736711397e-07 1.34944736711397e-07 1.34944736711397e-07 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "TRAF3 haplosufficiency" "TRAF3" "AD" 0 "0 / 0 / 58 / 2" "11 / 0 / 361 / 418" "614849" "https://alphafold.ebi.ac.uk/entry/Q13114" "Q13114" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "ALPS-like, infections, various autoimmune and atopic features" "low" "low" "high" NA NA "4. Diseases of Immune Dysregulation" NA "Low" "Low class switched B cells" "High IgG" NA NA 11 0 361 418 0 0 58 2 0 0 0 0 0 "4. PIRD" "4. Autoimmunity with or without Lymphoproliferation" "UNC93B1 deficiency" "UNC93B1" "AD" 2 "1 / 0 / 77 / 8" "14 / 9 / 378 / 434" NA "https://alphafold.ebi.ac.uk/entry/Q9H1C4" "Q9H1C4" "HP:0002715; HP:0002960" "Abnormality of the immune system; Autoimmunity" 279.9 "D81.8" "Childhood onset SLE, other autoimmunity" "high" "low" NA NA NA "4. Diseases of Immune Dysregulation" "GOF" "Low CD4" "High plasmablasts" NA NA "Type I interferon signature" 14 9 378 434 1 0 77 8 5.72434764523012e-07 5.72434764523012e-07 5.72434764523012e-07 5.72434764523012e-07 5.72434764523012e-07 "4. PIRD" "5. Immune Dysregulation with Colitis" "DOCK11 deficiency" "DOCK11" "XL" 1 "1 / 0 / 14 / 3" "20 / 2 / 188 / 30" "301109" "https://alphafold.ebi.ac.uk/entry/Q5JSL3" "Q5JSL3" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "Early onset autoimmunity, IBD common" "low" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Low class switched B cells" NA NA NA 20 2 188 30 1 0 14 3 4.84146445459952e-07 4.84146445459952e-07 4.84146445459952e-07 4.84146445459952e-07 4.84146445459952e-07 "4. PIRD" "5. Immune Dysregulation with Colitis" "ELF deficiency" "ELF4" "XL" 1 "1 / 0 / 6 / 5" "8 / 2 / 72 / 18" NA "https://alphafold.ebi.ac.uk/entry/Q99607" "Q99607" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "Early onset mucosal autoinflammation/ IBD, fevers and ulcers. Responded to IL-1, TNF or IL-12p40 blockade. Hyper inflammatory macrophages" "normal" "normal" "defective" NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal levels of serum IgM, G, A but reduced responses to live viral vaccines" NA NA 8 2 72 18 1 0 6 5 1.24193108542834e-06 1.24193108542834e-06 1.24193108542834e-06 1.24193108542834e-06 1.24193108542834e-06 "4. PIRD" "5. Immune Dysregulation with Colitis" "IL-10 deficiency" "IL10" "AR" 0 "0 / 0 / 20 / 1" "2 / 0 / 112 / 144" "124092" "https://alphafold.ebi.ac.uk/entry/P22301" "P22301" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis," "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 2 0 112 144 0 0 20 1 0 0 0 0 0 "4. PIRD" "5. Immune Dysregulation with Colitis" "IL-10Ra deficiency" "IL10RA" "AR" 7 "5 / 2 / 95 / 13" "30 / 6 / 472 / 392" "146933" "https://alphafold.ebi.ac.uk/entry/Q13651" "Q13651" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma" "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 30 6 472 392 5 2 95 13 1.28602498374568e-05 1.28676902057479e-05 6.43070433920199e-05 1.2867093018294e-05 2.57357501586688e-05 "4. PIRD" "5. Immune Dysregulation with Colitis" "IL-10Rb deficiency" "IL10RB" "AR" 3 "1 / 1 / 37 / 5" "17 / 16 / 265 / 220" "123889" "https://alphafold.ebi.ac.uk/entry/Q08334" "Q08334" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma" "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 17 16 265 220 1 1 37 5 3.4251312603305e-06 3.42664006513703e-06 6.85518563754942e-06 3.42588566273377e-06 5.14091285134323e-06 "4. PIRD" "5. Immune Dysregulation with Colitis" "NFAT5 haploinsufficiency" "NFAT5" "AD" 0 "0 / 0 / 115 / 7" "0 / 0 / 921 / 620" "604708" "https://alphafold.ebi.ac.uk/entry/O94916" "O94916" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "IBD, recurrent sinopulmonary infections" "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 921 620 0 0 115 7 0 0 0 0 0 "4. PIRD" "5. Immune Dysregulation with Colitis" "iRHOM deficiency" "RHBDF2" "AR" 2 "1 / 1 / 36 / 23" "2 / 0 / 608 / 288" NA "https://alphafold.ebi.ac.uk/entry/Q6PJF5" "Q6PJF5" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "Infections, autoimmunity, pneumatoceles, severe colitis" "normal" "normal" "high" NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "High IgE" NA NA 2 0 608 288 1 1 36 23 1.72245313036094e-05 1.72245313036094e-05 1.72245313036094e-05 1.72245313036094e-05 1.72245313036094e-05 "4. PIRD" "5. Immune Dysregulation with Colitis" "RIPK1 deficiency" "RIPK1" "AR" 2 "1 / 1 / 81 / 4" "40 / 11 / 562 / 372" "618108" "https://alphafold.ebi.ac.uk/entry/Q13546" "Q13546" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "Reccurrent infections, early-onset IBD, progressive polyarthritis" "borderline" "low" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Low" "Normal to low" "Normal" "Normal" NA 40 11 562 372 1 1 81 4 8.10563892919902e-08 8.10758172385478e-08 8.10952451851054e-08 8.1066103265269e-08 8.10855312118266e-08 "4. PIRD" "5. Immune Dysregulation with Colitis" "TGFB1 deficiency" "TGFB1" "AR" 3 "1 / 1 / 55 / 5" "10 / 12 / 518 / 368" "618213" "https://alphafold.ebi.ac.uk/entry/P01137" "P01137" "HP:0002715; HP:0004386" "Abnormality of the immune system; Gastrointestinal inflammation" 279.9 "D82.8" "IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy" "normal" "normal" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Normal" "Normal" NA 10 12 518 368 1 1 55 5 8.89753096334995e-06 8.89753096334995e-06 4.45550302459369e-05 8.89753096334995e-06 2.67262806046434e-05 "4. PIRD" "6. Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)" "ALPS-Caspase10" "CASP10" "AD" 1 "1 / 0 / 93 / 9" "8 / 2 / 724 / 414" "601762" "https://alphafold.ebi.ac.uk/entry/Q92851" "Q92851" "HP:0001433; HP:0002715; HP:0002716; HP:0002960" "Hepatosplenomegaly; Abnormality of the immune system; Lymphadenopathy; Autoimmunity" 279.9 "D89.82" "Adenopathies, splenomegaly, autoimmunity" "normal" "high" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Increased DN T cells" "Normal" "Normal" "Normal" NA 8 2 724 414 1 0 93 9 6.56870537385787e-06 6.56870537385787e-06 6.56870537385787e-06 6.56870537385787e-06 6.56870537385787e-06 "4. PIRD" "6. Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)" "ALPS-Caspase 8" "CASP8" "AR" 5 "1 / 4 / 50 / 7" "34 / 11 / 347 / 306" "601763" "https://alphafold.ebi.ac.uk/entry/Q14790" "Q14790" "HP:0001433; HP:0002715; HP:0002716; HP:0002960" "Hepatosplenomegaly; Abnormality of the immune system; Lymphadenopathy; Autoimmunity" 279.9 "D89.82" "Adenopathies, splenomegaly, bacterial and viral infections" "normal" "high" "low" "normal" NA "4. Diseases of Immune Dysregulation" NA "Slightly increased DN T cells" "Normal" "Low" "Normal" NA 34 11 347 306 1 4 50 7 1.03339680957562e-05 1.0348439818344e-05 3.10262238322777e-05 1.03355359723894e-05 1.0348439818344e-05 "4. PIRD" "6. Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)" "FADD deficiency" "FADD" "AR" 1 "1 / 0 / 26 / 2" "2 / 2 / 116 / 160" "602457" "https://alphafold.ebi.ac.uk/entry/Q13158" "Q13158" "HP:0001433; HP:0002715; HP:0002716; HP:0002960" "Hepatosplenomegaly; Abnormality of the immune system; Lymphadenopathy; Autoimmunity" 279.9 "D89.82" "Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction" "normal" "high" NA NA NA "4. Diseases of Immune Dysregulation" NA "Increased DN T cells" "Normal" NA NA NA 2 2 116 160 1 0 26 2 3.87239704076744e-08 3.87239704076744e-08 3.87239704076744e-08 3.87239704076744e-08 3.87239704076744e-08 "4. PIRD" "6. Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)" "ALPS-FAS" "TNFRSF6" "AR" NA NA NA "134637" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0001433; HP:0002715; HP:0002716; HP:0002960" "Hepatosplenomegaly; Abnormality of the immune system; Lymphadenopathy; Autoimmunity" 279.9 "D89.82" "Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12" "borderline" "high" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Increased CD4-CD8-TCR a/bdouble negative (DN) T cells" "Normal, low memory B cells" "Normal" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "4. PIRD" "6. Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)" "ALPS-FAS" "TNFRSF6" "AD" NA NA NA "134637" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0001433; HP:0002715; HP:0002716; HP:0002960" "Hepatosplenomegaly; Abnormality of the immune system; Lymphadenopathy; Autoimmunity" 279.9 "D89.82" "Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12" "borderline" "high" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Increased CD4-CD8-TCR a/bdouble negative (DN) T cells" "Normal, low memory B cells" "Normal" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "4. PIRD" "6. Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)" "ALPS-FASLG" "TNFSF6" "AR" NA NA NA "134638" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0001433; HP:0002715; HP:0002716; HP:0002960" "Hepatosplenomegaly; Abnormality of the immune system; Lymphadenopathy; Autoimmunity" 279.9 "D89.82" "Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated" "normal" "high" "normal" "normal" NA "4. Diseases of Immune Dysregulation" NA "Increased DN T cells" "Normal" "Normal" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "RLTPR (CARMIL2) deficiency" "CARMIL2" "AR" 7 "5 / 1 / 195 / 19" "84 / 36 / 902 / 1138" "610859" "https://alphafold.ebi.ac.uk/entry/Q6F5E8" "Q6F5E8" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy" "normal" "defective" NA NA NA "4. Diseases of Immune Dysregulation" NA "Nl number, low Treg, high CD4, poor function" "Nl number" NA NA NA 84 36 902 1138 5 1 195 19 1.12728232978727e-06 1.18161000346235e-06 7.89829977838253e-06 1.12821709334217e-06 2.25557589172047e-06 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "CD27 deficiency" "CD27" "AR" 2 "1 / 1 / 46 / 2" "23 / 5 / 221 / 194" "615122" "https://alphafold.ebi.ac.uk/entry/P26842" "P26842" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "Features triggered by EBV infection, HLH, aplastic anemia, lymphoma" "low" "normal" NA "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "No memory B cells" NA "Normal" "Low iNKT" 23 5 221 194 1 1 46 2 1.56346112371863e-05 1.56364673846509e-05 1.56383235321154e-05 1.56355393109186e-05 1.56373954583831e-05 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "CD70 deficiency" "CD70" "AR" 1 "1 / 0 / 4 / 0" "6 / 0 / 34 / 22" "602840" "https://alphafold.ebi.ac.uk/entry/P32970" "P32970" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV susceptibility, Hodgkin lymphoma" "borderline" "mixed" NA "normal" NA "4. Diseases of Immune Dysregulation" NA "Nl number, low Treg, poor activation and function" "Nl number, poor antibody and memory responses" NA "Normal" NA 6 0 34 22 1 0 4 0 3.8431874182015e-09 3.8431874182015e-09 3.8431874182015e-09 3.8431874182015e-09 3.8431874182015e-09 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "CTPS1 deficiency" "CTPS1" "AR" 1 "1 / 0 / 30 / 3" "2 / 0 / 234 / 354" "615897" "https://alphafold.ebi.ac.uk/entry/P17812" "P17812" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma" "borderline" "defective" NA "normal" NA "4. Diseases of Immune Dysregulation" NA "Nl to low, poor proliferation to antigen" "Nl/low" NA "Normal" NA 2 0 234 354 1 0 30 3 7.2229698429408e-07 7.2229698429408e-07 7.2229698429408e-07 7.2229698429408e-07 7.2229698429408e-07 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "IL-27RA deficiency" "IL27RA" "AR" 0 "0 / 0 / 14 / 3" "0 / 0 / 102 / 26" NA "https://alphafold.ebi.ac.uk/entry/Q6UWB1" "Q6UWB1" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "Severe primary EBV" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA NA 0 0 102 26 0 0 14 3 0 0 0 0 0 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "MAGT1 deficiency (XMEN)" "MAGT1" "XL" 2 "1 / 1 / 20 / 12" "54 / 18 / 283 / 216" "300853" "https://alphafold.ebi.ac.uk/entry/Q9H0U3" "Q9H0U3" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV infection, lymphoma, viral infections, respiratory and GI infections" "normal" "low" NA NA NA "4. Diseases of Immune Dysregulation" NA "Low CD4 Low recent thymic emigrant cels, poor proliferation to CD3" "Normal" NA NA NA 54 18 283 216 1 1 20 12 9.57098903185446e-08 9.57098903185446e-08 9.57098903185446e-08 9.57098903185446e-08 9.57098903185446e-08 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "PRKCD deficiency" "PRKCD" "AR" 2 "1 / 1 / 75 / 7" "23 / 12 / 453 / 638" "176977" "https://alphafold.ebi.ac.uk/entry/Q05655" "Q05655" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG" "borderline" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Low memory B cells, high CD5 B cells" NA NA NA 23 12 453 638 1 1 75 7 1.30717199234696e-07 1.30788076193753e-07 1.3085895315281e-07 1.30752637714224e-07 1.30823514673281e-07 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "RASGRP1 deficiency" "RASGRP1" "AR" 2 "1 / 1 / 47 / 6" "38 / 11 / 376 / 438" "603962" "https://alphafold.ebi.ac.uk/entry/O95267" "O95267" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma" NA NA NA "normal" NA "4. Diseases of Immune Dysregulation" NA "Poor activation, proliferation, motility" "Poor activation, proliferation, motility" NA "Normal" NA 38 11 376 438 1 1 47 6 1.85383555109937e-07 1.85416994651955e-07 1.85450434193974e-07 1.85400274880946e-07 1.85433714422965e-07 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "SH2D1A (SAP) deficiency (XLP1)" "SH2D1A" "XL" 3 "1 / 1 / 6 / 2" "65 / 19 / 107 / 118" "300490" "https://alphafold.ebi.ac.uk/entry/O60880" "O60880" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV, HLH, Lymphoproliferation, Aplastic anaemia" "low" "variable" "variable" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal or Increased activated T cells" "Reduced Memory B cells" "Variable" "Normal" "Low iNKT" 65 19 107 118 1 1 6 2 4.18822141422458e-09 4.18822141422458e-09 4.18822141422458e-09 4.18822141422458e-09 4.18822141422458e-09 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "TET2 deficiency" "TET2" "AR" 2 "1 / 1 / 81 / 26" "235 / 42 / 957 / 552" NA "https://alphafold.ebi.ac.uk/entry/Q6N021" "Q6N021" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "ALPS-like, viral ifnection, EBV+ lymphoma, FTT, developmenal delay, EBV viremia" "borderline" "high" "variable" NA NA "4. Diseases of Immune Dysregulation" NA "High DN T cells, low TH1, Th17 and TFH" "Normal numbers of B cells with low memory" "Variable" NA "Poor fas-mediated apoptosis" 235 42 957 552 1 1 81 26 9.73805134623069e-06 9.73852917057331e-06 9.73900699491593e-06 9.738290258402e-06 9.73876808274462e-06 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "CD137 deficiency (41BB)" "TNFRSF9" "AR" 2 "1 / 1 / 27 / 3" "16 / 5 / 144 / 172" "602250" "https://alphafold.ebi.ac.uk/entry/Q07011" "Q07011" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV lymphoproliferation, B-cell lymphoma" "normal" "normal" "low" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" "Low" "Normal" NA 16 5 144 172 1 1 27 3 1.91700766483836e-07 7.66279927888418e-07 1.340859089293e-06 4.78990347186127e-07 1.05356950859071e-06 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "4-1 BBL deficiency" "TNFSF9" "AR" 0 "0 / 0 / 2 / 1" "0 / 0 / 36 / 6" "620282" "https://alphafold.ebi.ac.uk/entry/P41273" "P41273" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV in B cellsa nd smooth muscle" "normal" "normal" NA NA NA "4. Diseases of Immune Dysregulation" NA "Normal" "Normal" NA NA "Low CD137L after stimulation" 0 0 36 6 0 0 2 1 0 0 0 0 0 "4. PIRD" "7. Susceptibility to EBV and Lymphoproliferative Conditions" "XIAP deficiency (XLP2)" "XIAP" "XL" 2 "1 / 1 / 24 / 17" "107 / 22 / 330 / 326" "300079" "https://alphafold.ebi.ac.uk/entry/P98170" "P98170" "HP:0002715; HP:0020072" "Abnormality of the immune system; Persistent EBV viremia" 238.79 "D82.3" "EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia" "borderline" "variable" "variable" "normal" NA "4. Diseases of Immune Dysregulation" NA "Normal or Increased activated T cells; low/normal iNK T cells" "Normal or reduced Memory B cells" "Variable" "Normal" NA 107 22 330 326 1 1 24 17 6.79563766137692e-06 6.79563766137692e-06 6.79563766137692e-06 6.79563766137692e-06 6.79563766137692e-06 "5. PD" "1. Congenital Neutropenias" "Specific granule deficiency" "CEBPE" "AR" 3 "1 / 1 / 55 / 2" "19 / 2 / 216 / 182" "189965" "https://alphafold.ebi.ac.uk/entry/Q15744" "Q15744" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.2 "D71" "Neutrophils with bilobed nuclei" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" "GOF" NA NA NA "Low" NA 19 2 216 182 1 1 55 2 1.1500869906955e-07 1.1500869906955e-07 1.15278838441351e-07 1.1500869906955e-07 1.1514376875545e-07 "5. PD" "1. Congenital Neutropenias" "3-Methylglutaconic aciduria" "CLPB" "AD" 10 "8 / 1 / 131 / 29" "67 / 27 / 790 / 666" "616254" "https://alphafold.ebi.ac.uk/entry/Q9H078" "Q9H078" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 67 27 790 666 8 1 131 29 6.69483804627459e-07 6.72456416428426e-07 2.93942981341588e-05 6.70051672247892e-07 1.34000113037961e-06 "5. PD" "1. Congenital Neutropenias" "3-Methylglutaconic aciduria" "CLPB" "AR" 10 "8 / 1 / 131 / 29" "67 / 27 / 790 / 666" "616254" "https://alphafold.ebi.ac.uk/entry/Q9H078" "Q9H078" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 67 27 790 666 8 1 131 29 6.69483804627459e-07 6.72456416428426e-07 2.93942981341588e-05 6.70051672247892e-07 1.34000113037961e-06 "5. PD" "1. Congenital Neutropenias" "G-CSF receptor deficiency" "CSF3R" "AR" 4 "2 / 1 / 128 / 12" "58 / 26 / 754 / 498" "138971" "https://alphafold.ebi.ac.uk/entry/Q99062" "Q99062" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" NA NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 58 26 754 498 2 1 128 12 2.70011954465159e-06 6.74848460907396e-06 0.000113317420576314 2.70025206953555e-06 3.64268598743167e-05 "5. PD" "1. Congenital Neutropenias" "CXCR2 deficiency" "CXCR2" "AR" 1 "0 / 1 / 49 / 9" "8 / 4 / 216 / 198" NA "https://alphafold.ebi.ac.uk/entry/P25025" "P25025" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Myelokathexis (3/6 pts), recurrent gingivitis, oral ulcers, hypergammaglobulinemia" "normal" "variable" "high" "low" NA "5. Congenital defects of phagocyte number or function" NA "Normal numbers of CD4+ T cells, variable CD8+ T cells, NK cells normal" "Normal" "High serum IgG, IgA, IgM" "Severe neutropenia" NA 8 4 216 198 0 1 49 9 3.017757928386e-07 3.017757928386e-07 3.017757928386e-07 3.017757928386e-07 3.017757928386e-07 "5. PD" "1. Congenital Neutropenias" "DBF4 deficiency" "DBF4" "AR" NA NA "0 / 0 / 66 / 8" NA "https://alphafold.ebi.ac.uk/entry/Q9UBU7" "Q9UBU7" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Developmental delay" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 0 0 66 8 NA NA NA NA 0 0 0 0 0 "5. PD" "1. Congenital Neutropenias" "Schwachman Diamond syndrome due to DNAJC21 deficiency" "DNAJC21" "AR" 3 "2 / 1 / 79 / 8" "66 / 22 / 382 / 328" "617048" "https://alphafold.ebi.ac.uk/entry/Q5F1R6" "Q5F1R6" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.2 "D71" "Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 66 22 382 328 2 1 79 8 3.71462602178168e-07 3.71892303819128e-07 1.48750103855695e-06 3.71677452998648e-07 9.29696671188037e-07 "5. PD" "1. Congenital Neutropenias" "Schwachman Diamond syndrome due to EFL1 deficiency" "EFL1" "AR" 4 "3 / 1 / 116 / 17" "14 / 2 / 491 / 488" "617941" "https://alphafold.ebi.ac.uk/entry/Q7Z2Z2" "Q7Z2Z2" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.2 "D71" "Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 14 2 491 488 3 1 116 17 1.5682485668002e-05 4.70657906669733e-05 7.84346338740028e-05 3.92173678914599e-05 5.49105979945012e-05 "5. PD" "1. Congenital Neutropenias" "Elastase deficiency (SCN1)" "ELANE" "AD" 5 "3 / 1 / 71 / 9" "72 / 82 / 628 / 436" "130130" "https://alphafold.ebi.ac.uk/entry/P08246" "P08246" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 72 82 628 436 3 1 71 9 6.56766998771846e-06 6.57039e-06 1.31389e-05 6.56766998771846e-06 6.57056e-06 "5. PD" "1. Congenital Neutropenias" "G6PC3 deficiency (SCN4)" "G6PC3" "AR" 5 "4 / 1 / 56 / 3" "77 / 20 / 392 / 420" "611045" "https://alphafold.ebi.ac.uk/entry/Q9BUM1" "Q9BUM1" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 77 20 392 420 4 1 56 3 3.86795313485934e-07 3.871693571195e-07 3.48022121352398e-06 3.87082799667717e-07 1.16074726797687e-06 "5. PD" "1. Congenital Neutropenias" "Glycogen storage disease type 1b" "G6PT1" "AR" NA NA NA "602671" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" "Monocytes" NA NA NA NA NA NA NA NA 0 0 0 0 0 "5. PD" "1. Congenital Neutropenias" "GFI 1 deficiency (SCN2)" "GFI1" "AD" 1 "1 / 0 / 47 / 9" "2 / 0 / 458 / 316" "600871" "https://alphafold.ebi.ac.uk/entry/Q99684" "Q99684" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "B/T lymphopenia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 2 0 458 316 1 0 47 9 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 6.56792880365177e-06 "5. PD" "1. Congenital Neutropenias" "HAX1 deficiency (Kostmann Disease) (SCN3)" "HAX1" "AR" 3 "1 / 2 / 63 / 13" "71 / 39 / 320 / 450" "605998" "https://alphafold.ebi.ac.uk/entry/O00165" "O00165" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 71 39 320 450 1 2 63 13 4.13237367263581e-08 8.25776351519077e-08 4.49939690808902e-07 6.19506859391329e-08 2.66258662980405e-07 "5. PD" "1. Congenital Neutropenias" "HYOU1 deficiency" "HYOU1" "AR" 1 "1 / 0 / 121 / 7" "4 / 0 / 909 / 494" "601746" "https://alphafold.ebi.ac.uk/entry/Q9Y4L1" "Q9Y4L1" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Hypoglycemia, inflammatory complications" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 4 0 909 494 1 0 121 7 1.77747995108541e-07 1.77747995108541e-07 1.77747995108541e-07 1.77747995108541e-07 1.77747995108541e-07 "5. PD" "1. Congenital Neutropenias" "JAGN1 deficiency" "JAGN1" "AR" 1 "1 / 0 / 28 / 4" "4 / 2 / 163 / 128" "616012" "https://alphafold.ebi.ac.uk/entry/Q8N5M9" "Q8N5M9" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Myeloid maturation arrest, osteopenia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 4 2 163 128 1 0 28 4 9.52193518324e-07 9.52193518324e-07 9.52193518324e-07 9.52193518324e-07 9.52193518324e-07 "5. PD" "1. Congenital Neutropenias" "P14/LAMTOR2 deficiency" "LAMTOR2" "AR" 0 "0 / 0 / 7 / 3" "0 / 0 / 76 / 70" "610389" "https://alphafold.ebi.ac.uk/entry/Q9Y2Q5" "Q9Y2Q5" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Neutropenia, Hypogammaglobulinemia ¯CD8 cytotoxicity, partial albinism, growth failure" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" "Monocytes" 0 0 76 70 0 0 7 3 0 0 0 0 0 "5. PD" "1. Congenital Neutropenias" "Shwachman-Diamond Syndrome due to SBSD deficiency" "SBDS" "AR" 5 "2 / 1 / 17 / 1" "34 / 52 / 128 / 88" "607444" "https://alphafold.ebi.ac.uk/entry/Q9Y3A5" "Q9Y3A5" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.2 "D71" "Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 34 52 128 88 2 1 17 1 4.17078555285885e-07 5.83553255927202e-06 0.000201448620506628 1.25186273387575e-06 6.44530382262396e-05 "5. PD" "1. Congenital Neutropenias" "SMARCD2 deficiency" "SMARCD2" "AR" 2 "1 / 1 / 40 / 4" "36 / 14 / 260 / 386" "601736" "https://alphafold.ebi.ac.uk/entry/Q92925" "Q92925" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 36 14 260 386 1 1 40 4 1.94781413869034e-07 1.94781413869034e-07 1.94781413869034e-07 1.94781413869034e-07 1.94781413869034e-07 "5. PD" "1. Congenital Neutropenias" "SRP19 deficiency" "SRP19" "AR" NA NA "2 / 0 / 26 / 2" NA "https://alphafold.ebi.ac.uk/entry/P09132" "P09132" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Exocrine pancreatic insifficiency, poor growth, recurrent infections" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" "Reduction in electron dense granules in PMN" 2 0 26 2 NA NA NA NA 0 0 0 0 0 "5. PD" "1. Congenital Neutropenias" "SRP54 deficiency" "SRP54" "AD" 2 "1 / 1 / 14 / 2" "6 / 6 / 212 / 338" NA "https://alphafold.ebi.ac.uk/entry/P61011" "P61011" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Schwachman Diamond features" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 6 6 212 338 1 1 14 2 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 "5. PD" "1. Congenital Neutropenias" "SRPRA deficiency" "SRPRA" "AR" NA NA "2 / 0 / 24 / 14" NA "https://alphafold.ebi.ac.uk/entry/P08240" "P08240" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Exocrine pancreatic insifficiency, poor growth, recurrent infections" NA NA NA NA NA "5. Congenital defects of phagocyte number or function" NA NA NA NA NA "Reduction in electron dense granules in PMN" 2 0 24 14 NA NA NA NA 0 0 0 0 0 "5. PD" "1. Congenital Neutropenias" "Barth Syndrome, (3-Methylglutaconic aciduria type II)" "TAZ" "XL" 3 "1 / 1 / 25 / 4" NA "300394" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Cardiomyopathy, myopathy, growth retardation" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA NA NA NA NA 1 1 25 4 4.4547959140154e-07 4.4547959140154e-07 4.4547959140154e-07 4.4547959140154e-07 4.4547959140154e-07 "5. PD" "1. Congenital Neutropenias" "Clericuzio syndrome (Poikiloderma with neutropenia)" "USB1" "AR" 2 "1 / 1 / 58 / 4" "38 / 16 / 338 / 284" "613276" "https://alphafold.ebi.ac.uk/entry/Q9BQ65" "Q9BQ65" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Retinopathy, developmental delay, facial dysmorphisms, poikiloderma" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 38 16 338 284 1 1 58 4 8.92574662478177e-07 8.94106948852913e-07 8.95639235227649e-07 8.93340805665545e-07 8.94873092040281e-07 "5. PD" "1. Congenital Neutropenias" "Cohen syndrome" "VPS13B" "AR" 49 "20 / 13 / 725 / 37" "1043 / 690 / 4780 / 5515" "607817" "https://alphafold.ebi.ac.uk/entry/Q7Z7G8" "Q7Z7G8" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Dysmorphism, mental retardation, obesity, deafness, neutropenia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 1043 690 4780 5515 20 13 725 37 1.42487078976363e-05 1.42652149983456e-05 0.00014267818992172 1.42575145768728e-05 2.85180228979048e-05 "5. PD" "1. Congenital Neutropenias" "VPS45 deficiency (SCN5)" "VPS45" "AR" 2 "1 / 1 / 76 / 7" "2 / 4 / 350 / 867" "610035" "https://alphafold.ebi.ac.uk/entry/Q9NRW7" "Q9NRW7" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 2 4 350 867 1 1 76 7 5.11344456870436e-07 5.12117711727268e-07 5.128909665841e-07 5.11731084298852e-07 5.12504339155684e-07 "5. PD" "1. Congenital Neutropenias" "X-linked neutropenia/ myelodysplasia WAS GOF" "WAS" "XL" 3 "1 / 1 / 36 / 17" "266 / 86 / 434 / 560" "300392" "https://alphafold.ebi.ac.uk/entry/P42768" "P42768" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.01 "D70.0" "Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" "GOF" NA NA NA "Low" NA 266 86 434 560 1 1 36 17 2.45643444308153e-07 2.45643444308153e-07 2.47912462795771e-07 2.45643444308153e-07 2.46777953551962e-07 "5. PD" "2. Defects of Motility" "b actin deficiency" "ACTB" "AD" 3 "1 / 1 / 4 / 0" "86 / 133 / 324 / 618" "102630" "https://alphafold.ebi.ac.uk/entry/P60709" "P60709" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 288.2 "D71" "Mental retardation, short stature" NA NA NA NA NA "5. Congenital defects of phagocyte number or function" NA NA NA NA NA NA 86 133 324 618 1 1 4 0 6.56749745509474e-06 6.56749745509474e-06 6.56789e-06 6.56749745509474e-06 6.56769372754737e-06 "5. PD" "2. Defects of Motility" "CCR2 deficiency" "CCR2" "AR" NA NA "10 / 0 / 46 / 18" NA "https://alphafold.ebi.ac.uk/entry/P41597" "P41597" "HP:0002715; HP:0004322" "Abnormality of the immune system; Short stature" 288.2 "D71" "Pulmonary alveolar proteinosis, polycystic lung disease" NA NA NA NA NA "5. Congenital defects of phagocyte number or function" NA NA NA NA NA "Monocytes affected" 10 0 46 18 NA NA NA NA 0 0 0 0 0 "5. PD" "2. Defects of Motility" "CEBPE defects" "CEBPE" "AR" 3 "1 / 1 / 55 / 2" "19 / 2 / 216 / 182" "245480" "https://alphafold.ebi.ac.uk/entry/Q15744" "Q15744" "HP:0002715; HP:0010280" "Abnormality of the immune system; Stomatitis" 288.2 "D71" "Recurrent abdominal pain, aseptic fevers, inflammation, abscesses, type I IFN signature" NA NA NA NA NA "5. Congenital defects of phagocyte number or function" NA NA NA NA NA "Mild bleeding diathesis" 19 2 216 182 1 1 55 2 1.1500869906955e-07 1.1500869906955e-07 1.15278838441351e-07 1.1500869906955e-07 1.1514376875545e-07 "5. PD" "2. Defects of Motility" "Cystic fibrosis" "CFTR" "AR" 106 "80 / 9 / 497 / 4" "1762 / 592 / 4971 / 2860" "602421" "https://alphafold.ebi.ac.uk/entry/P13569" "P13569" "HP:0002715; HP:0002783" "Abnormality of the immune system; Recurrent lower respiratory tract infections" 288.2 "D71" "Respiratory infections, pancreatic insufficiency, elevated sweat chloride" NA NA NA "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Normal" "Macrophage dysfunction" 1762 592 4971 2860 80 9 497 4 8.43792185575851e-06 1.26770659211771e-05 0.0019478155819698 8.44483309552463e-06 3.3805250413744e-05 "5. PD" "2. Defects of Motility" "Papillon-Lefèvre Syndrome" "CTSC" "AR" 9 "6 / 1 / 58 / 4" "127 / 30 / 395 / 484" "602365" "https://alphafold.ebi.ac.uk/entry/P53634" "P53634" "HP:0000704; HP:0002715" "Periodontitis; Abnormality of the immune system" 288.2 "D71" "Periodontitis, palmoplantar hyperkeratosis in some patients" NA NA NA "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Normal" NA 127 30 395 484 6 1 58 4 1.23003796417515e-05 1.23253207646263e-05 0.00011068737181437 1.23063715031352e-05 4.92372132813333e-05 "5. PD" "2. Defects of Motility" "Leukocyte adhesion deficiency type 3 (LAD3)" "FERMT3" "AR" 2 "1 / 1 / 121 / 22" "28 / 12 / 465 / 586" "607901" "https://alphafold.ebi.ac.uk/entry/Q86UX7" "Q86UX7" "HP:0002715; HP:0410258" "Abnormality of the immune system; Neutrophilia in absence of infection" 288.2 "D71" "LAD type 1 plus bleeding tendency" NA NA NA "high" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "High" NA 28 12 465 586 1 1 121 22 4.06809739979369e-06 4.06840400957204e-06 4.06871061935039e-06 4.06825070468287e-06 4.06855731446122e-06 "5. PD" "2. Defects of Motility" "Localized juvenile periodontitis" "FPR1" "AR" 0 "0 / 0 / 54 / 13" "0 / 0 / 274 / 194" "136537" "https://alphafold.ebi.ac.uk/entry/P21462" "P21462" "HP:0000704; HP:0002715" "Periodontitis; Abnormality of the immune system" 288.2 "D71" "Periodontitis only" NA NA NA "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Normal" NA 0 0 274 194 0 0 54 13 0 0 0 0 0 "5. PD" "2. Defects of Motility" "Leukocyte adhesion deficiency type 1 (LAD1)" "ITGB2" "AR" 13 "7 / 3 / 162 / 11" "104 / 29 / 730 / 832" "600065" "https://alphafold.ebi.ac.uk/entry/P05107" "P05107" "HP:0002715; HP:0410258" "Abnormality of the immune system; Neutrophilia in absence of infection" 288.2 "D84.0" "Delayed cord separation, skin ulcers, periodontitis, leukocytosis" NA NA NA "high" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "High" NA 104 29 730 832 7 3 162 11 1.18740146213697e-05 2.37471114429176e-05 0.000106892541601518 1.18783890702325e-05 3.5620356965136e-05 "5. PD" "2. Defects of Motility" "Neutropenia with combined immune deficiency due to MKL1 deficiency" "MRTFA" "AR" NA NA "2 / 0 / 896 / 668" "606078" "https://alphafold.ebi.ac.uk/entry/Q969V6" "Q969V6" "HP:0002715; HP:0410252" "Abnormality of the immune system; Chronic neutropenia" 288.2 "D71" "Mild thrombocytopenia" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 2 0 896 668 NA NA NA NA 0 0 0 0 0 "5. PD" "2. Defects of Motility" "Rac 2 deficiency (LOF)" "RAC2" "AD" 3 "1 / 1 / 15 / 1" "8 / 2 / 136 / 228" "602049" "https://alphafold.ebi.ac.uk/entry/P15153" "P15153" "HP:0002715; HP:0410258" "Abnormality of the immune system; Neutrophilia in absence of infection" 288.2 "D71" "Poor wound healing, leukocytosis" NA NA NA "high" "LOF" "5. Congenital defects of phagocyte number or function" NA NA NA NA "High" NA 8 2 136 228 1 1 15 1 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 4.81346145666936e-09 "5. PD" "2. Defects of Motility" "Leukocyte adhesion deficiency type 2 (LAD2)" "SLC35C1" "AR" 2 "1 / 1 / 57 / 2" "11 / 4 / 358 / 266" "605881" "https://alphafold.ebi.ac.uk/entry/Q96A29" "Q96A29" "HP:0002715; HP:0410258" "Abnormality of the immune system; Neutrophilia in absence of infection" 288.2 "D71" "Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay" NA NA NA "high" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "High" NA 11 4 358 266 1 1 57 2 1.77685934471093e-06 2.66553434480962e-06 3.55420934490831e-06 2.22119684476028e-06 3.10987184485897e-06 "5. PD" "2. Defects of Motility" "WDR1 deficiency (Lazy leukocyte)" "WDR1" "AR" 1 "1 / 0 / 56 / 7" "18 / 0 / 289 / 716" "604734" "https://alphafold.ebi.ac.uk/entry/O75083" "O75083" "HP:0002715; HP:0010280" "Abnormality of the immune system; Stomatitis" 288.2 "D71" "Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate" NA NA NA "low" NA "5. Congenital defects of phagocyte number or function" NA NA NA NA "Low" NA 18 0 289 716 1 0 56 7 8.38538085646392e-06 8.38538085646392e-06 8.38538085646392e-06 8.38538085646392e-06 8.38538085646392e-06 "5. PD" "3. Defects of Respiratory Burst" "Autosomal recessive CGD p22phox" "CYBA" "AR" 7 "4 / 1 / 83 / 41" "89 / 31 / 288 / 534" "608508" "https://alphafold.ebi.ac.uk/entry/P13498" "P13498" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" 288.2 "D71" "Infections, autoinflammatory phenotype" NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 89 31 288 534 4 1 83 41 2.72961823797771e-05 2.73135786902536e-05 0.00024588375992767 2.72984932984937e-05 0.00013659974980534 "5. PD" "3. Defects of Respiratory Burst" "X-linked chronic granulomatous disease (CGD), gp91phox" "CYBB" "XL" 3 "1 / 1 / 19 / 19" "322 / 70 / 376 / 730" "300481" "https://alphafold.ebi.ac.uk/entry/P04839" "P04839" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" 288.2 "D71" "Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus" NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 322 70 376 730 1 1 19 19 1.32983713805572e-07 1.33688377949345e-07 1.34031490910752e-07 1.33336045877459e-07 1.33859934430048e-07 "5. PD" "3. Defects of Respiratory Burst" "Autosomal recessive CGD EROS" "CYBC1" "AR" NA NA "7 / 4 / 121 / 214" "618334" "https://alphafold.ebi.ac.uk/entry/Q9BQA9" "Q9BQA9" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" NA NA NA NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 7 4 121 214 NA NA NA NA 0 0 0 0 0 "5. PD" "3. Defects of Respiratory Burst" "G6PD deficiency Class I" "G6PD" "XL" 29 "12 / 7 / 43 / 6" "145 / 238 / 461 / 610" "305900" "https://alphafold.ebi.ac.uk/entry/P11413" "P11413" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" 288.2 "D71" "Infections" NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 145 238 461 610 12 7 43 6 2.35732232640836e-06 4.75630066286067e-06 0.000194900908608464 2.38101964025378e-06 3.10111060257185e-05 "5. PD" "3. Defects of Respiratory Burst" "Autosomal recessive CGD p47phox" "NCF1" "AR" 3 "2 / 0 / 3 / 2" "23 / 3 / 46 / 36" "608512" "https://alphafold.ebi.ac.uk/entry/P14598" "P14598" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" 288.2 "D71" "Infections, autoinflammatory phenotype" NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 23 3 46 36 2 0 3 2 2.40998675650504e-07 2.27485905848133e-06 1.99564529505656e-05 1.25792886706592e-06 1.11156560045235e-05 "5. PD" "3. Defects of Respiratory Burst" "Autosomal recessive CGD p67phox" "NCF2" "AR" 7 "4 / 2 / 69 / 10" "86 / 39 / 435 / 700" "608515" "https://alphafold.ebi.ac.uk/entry/P19878" "P19878" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" 288.2 "D71" "Infections, autoinflammatory phenotype" NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 86 39 435 700 4 2 69 10 7.00496911661011e-06 7.01201234876272e-06 2.10247619057113e-05 7.00837589439473e-06 1.40137861404704e-05 "5. PD" "3. Defects of Respiratory Burst" "Autosomal recessive CGD p40phox" "NCF4" "AR" 3 "1 / 1 / 77 / 5" "26 / 16 / 334 / 418" "601488" "https://alphafold.ebi.ac.uk/entry/Q15080" "Q15080" "HP:0002715; HP:0002718; HP:0002841" "Abnormality of the immune system; Recurrent bacterial infections; Recurrent fungal infections" 288.2 "D71" "Infections, autoinflammatory phenotype" NA NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA NA "Normal" "Normal" "Neutrophil dysfunction" 26 16 334 418 1 1 77 5 3.43204003977124e-05 5.72371066795914e-05 0.000103205520659875 4.57787535386519e-05 8.02213136697331e-05 "5. PD" "4. Other Non-Lymphoid Defects" "Congenital pulmonary alveolar proteinosis due to CSF2RA mutations" "CSF2RA" "XL" 7 "5 / 2 / 84 / 16" "69 / 16 / 600 / 1116" "300770" "https://alphafold.ebi.ac.uk/entry/P15509" "P15509" "HP:0002715; HP:0012312" "Abnormality of the immune system; Monocytopenia" 289.89 "D72.818" "Alveolar proteinosis" "normal" "normal" "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA "Normal" "Normal" "Normal" "Normal" "Alveolar macrophages" 69 16 600 1116 5 2 84 16 1.60724283708399e-05 3.21473604708776e-05 9.74148088278148e-05 2.41104442480246e-05 4.04710774938181e-05 "5. PD" "4. Other Non-Lymphoid Defects" "Congenital pulmonary alveolar proteinosis due to CSF2RB mutations" "CSF2RB" "AR" 0 "0 / 0 / 143 / 14" "2 / 2 / 836 / 676" "614370" "https://alphafold.ebi.ac.uk/entry/P32927" "P32927" "HP:0002715; HP:0012312" "Abnormality of the immune system; Monocytopenia" 289.89 "D72.818" "Alveolar proteinosis" "normal" "normal" "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA "Normal" "Normal" "Normal" "Normal" "Alveolar macrophages" 2 2 836 676 0 0 143 14 0 0 0 0 0 "5. PD" "4. Other Non-Lymphoid Defects" "GATA2 deficiency (MonoMac syndrome)" "GATA2" "AD" 3 "1 / 1 / 88 / 11" "298 / 109 / 1609 / 1112" "137295" "https://alphafold.ebi.ac.uk/entry/P23769" "P23769" "HP:0002715; HP:0006517; HP:0012312" "Abnormality of the immune system; Intraalveolar phospholipid accumulation; Monocytopenia" 289.89 "D72.818" "Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema" "decreased" NA "normal" "normal" NA "5. Congenital defects of phagocyte number or function" NA NA "Declining" "Normal" "Normal" "Low monocytes, DC, NK" 298 109 1609 1112 1 1 88 11 6.56680741523893e-06 6.56680741523893e-06 6.5703e-06 6.56680741523893e-06 6.56855370761947e-06 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "Macrophage gp91 phox deficiency" "CYBB" "XL" 3 "1 / 1 / 19 / 19" "322 / 70 / 376 / 730" "300481" "https://alphafold.ebi.ac.uk/entry/P04839" "P04839" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Isolated susceptibility to mycobacteria" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Macrophage dysfunction" 322 70 376 730 1 1 19 19 1.32983713805572e-07 1.33688377949345e-07 1.34031490910752e-07 1.33336045877459e-07 1.33859934430048e-07 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IFNG deficiency" "IFNG" "AR" 0 "0 / 0 / 2 / 0" "4 / 0 / 58 / 18" NA "https://alphafold.ebi.ac.uk/entry/P01579" "P01579" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria" "normal" "normal" "normal" NA NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" NA NA 4 0 58 18 0 0 2 0 0 0 0 0 0 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IFN-g receptor 1 deficiency" "IFNGR1" "AR" 4 "2 / 1 / 65 / 5" "45 / 18 / 471 / 252" "107470" "https://alphafold.ebi.ac.uk/entry/P15260" "P15260" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 45 18 471 252 2 1 65 5 4.31666137017143e-07 1.29470732996537e-06 2.59009526020698e-06 1.07888299229725e-06 1.61861835195683e-06 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IFN-g receptor 1 deficiency" "IFNGR1" "AD" 4 "2 / 1 / 65 / 5" "45 / 18 / 471 / 252" "107470" "https://alphafold.ebi.ac.uk/entry/P15260" "P15260" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 45 18 471 252 2 1 65 5 4.31666137017143e-07 1.29470732996537e-06 2.59009526020698e-06 1.07888299229725e-06 1.61861835195683e-06 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IFN-g receptor 2 deficiency" "IFNGR2" "AR" 2 "1 / 1 / 51 / 6" "14 / 6 / 259 / 252" "147569" "https://alphafold.ebi.ac.uk/entry/P38484" "P38484" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 14 6 259 252 1 1 51 6 3.20387766772797e-06 4.84541692618138e-06 6.4869561846348e-06 4.02464729695467e-06 5.66618655540809e-06 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IL-12p40 (IL-12 and IL-23) deficiency" "IL12B" "AR" 3 "3 / 0 / 44 / 6" "20 / 6 / 250 / 184" "161561" "https://alphafold.ebi.ac.uk/entry/P29460" "P29460" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 20 6 250 184 3 0 44 6 4.39195358707271e-07 4.39304977478493e-07 4.41323566084557e-07 4.39250168092882e-07 4.40314271781525e-07 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IL-12 and IL-23 receptor b1 chain deficiency" "IL12RB1" "AR" 10 "9 / 1 / 119 / 21" "104 / 20 / 536 / 474" "601604" "https://alphafold.ebi.ac.uk/entry/P42701" "P42701" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 104 20 536 474 9 1 119 21 1.30091246612591e-05 1.30299187491123e-05 0.000195447416660948 1.30196837626892e-05 7.4914306752395e-05 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IL-12Rb2 deficiency" "IL12RB2" "AR" 0 "0 / 0 / 97 / 22" "0 / 0 / 672 / 410" NA "https://alphafold.ebi.ac.uk/entry/Q99665" "Q99665" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 672 410 0 0 97 22 0 0 0 0 0 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IL-23R deficiency" "IL23R" "AR" 0 "0 / 0 / 48 / 7" "0 / 0 / 402 / 314" NA "https://alphafold.ebi.ac.uk/entry/Q5VWK5" "Q5VWK5" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and Salmonella" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 402 314 0 0 48 7 0 0 0 0 0 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IRF1 deficiency" "IRF1" "AR" NA NA "8 / 0 / 20 / 30" "620668" "https://alphafold.ebi.ac.uk/entry/P10914" "P10914" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Severe MSMD, histoplasmosis" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 8 0 20 30 NA NA NA NA 0 0 0 0 0 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IRF8 deficiency (AR)" "IRF8" "AR" 2 "1 / 1 / 56 / 9" "4 / 2 / 413 / 390" "601565" "https://alphafold.ebi.ac.uk/entry/Q02556" "Q02556" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and multiple other infectious agents" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CD1c+ MDC" 4 2 413 390 1 1 56 9 3.56866707347393e-07 3.56866707347393e-07 3.56866707347393e-07 3.56866707347393e-07 3.56866707347393e-07 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "IRF8 deficiency (AD)" "IRF8" "AD" 2 "1 / 1 / 56 / 9" "4 / 2 / 413 / 390" "601565" "https://alphafold.ebi.ac.uk/entry/Q02556" "Q02556" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CD1c+ MDC" 4 2 413 390 1 1 56 9 3.56866707347393e-07 3.56866707347393e-07 3.56866707347393e-07 3.56866707347393e-07 3.56866707347393e-07 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "ISG15 deficiency" "ISG15" "AR" 2 "1 / 1 / 36 / 5" "4 / 2 / 142 / 138" "147571" "https://alphafold.ebi.ac.uk/entry/P05161" "P05161" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria, brain calcifications" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Ubiquitously expressed" 4 2 142 138 1 1 36 5 5.15052813353108e-06 5.15052813353108e-06 5.15052813353108e-06 5.15052813353108e-06 5.15052813353108e-06 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "JAK1 (LOF)" "JAK1" "AR" 2 "1 / 1 / 67 / 10" "4 / 4 / 632 / 764" "147795" "https://alphafold.ebi.ac.uk/entry/P23458" "P23458" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and viruses, urothelial carcinoma" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 4 4 632 764 1 1 67 10 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "MCTS1 deficiency" "MCTS1" "XL" 0 "0 / 0 / 0 / 1" "6 / 0 / 6 / 4" "301115" "https://alphafold.ebi.ac.uk/entry/Q9ULC4" "Q9ULC4" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Severe MSMD, histoplasmosis" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 6 0 6 4 0 0 0 1 0 0 0 0 0 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "RORgt deficiency" "RORC" "AR" 2 "1 / 1 / 63 / 6" "12 / 4 / 251 / 334" "602943" "https://alphafold.ebi.ac.uk/entry/P51449" "P51449" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria and candida" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 12 4 251 334 1 1 63 6 2.31910229192466e-07 2.31910229192466e-07 2.31910229192466e-07 2.31910229192466e-07 2.31910229192466e-07 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "SPPL2a deficiency" "SPPL2A" "AR" 1 "1 / 0 / 57 / 6" "4 / 0 / 414 / 282" NA "https://alphafold.ebi.ac.uk/entry/Q8TCT8" "Q8TCT8" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria, Salmonella," NA "defective" NA NA NA "6. Defects in intrinsic and innate immunity" NA "Poor Th1" NA NA NA "CDC" 4 0 414 282 1 0 57 6 5.48571534671721e-07 5.48571534671721e-07 5.48571534671721e-07 5.48571534671721e-07 5.48571534671721e-07 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "STAT1 deficiency (AD LOF)" "STAT1" "AD" 3 "1 / 1 / 37 / 1" "108 / 70 / 534 / 664" "600555" "https://alphafold.ebi.ac.uk/entry/P42224" "P42224" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria, Salmonella," "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 108 70 534 664 1 1 37 1 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "TBX21 deficiency" "TBX21" "AR" 0 "0 / 0 / 19 / 0" "2 / 0 / 82 / 20" NA "https://alphafold.ebi.ac.uk/entry/Q9UL17" "Q9UL17" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria" "normal" "low" "normal" NA NA "6. Defects in intrinsic and innate immunity" NA "Low MAIT, CXCR3 Th1 T cells" "Normal" "Normal" NA NA 2 0 82 20 0 0 19 0 0 0 0 0 0 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "P1104A TYK2 homozygosity" "TYK2" "AR" 3 "2 / 1 / 231 / 24" "47 / 28 / 996 / 914" NA "https://alphafold.ebi.ac.uk/entry/P29597" "P29597" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to mycobacteria" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 47 28 996 914 2 1 231 24 5.5004342680325e-06 1.10094398001416e-05 1.10189848989792e-05 8.25493703408707e-06 1.10142123495604e-05 "6. IID" "1. Mendelian Susceptibility to mycobacterial disease (MSMD)" "Tyk2 deficiency" "TYK2" "AR" 3 "2 / 1 / 231 / 24" "47 / 28 / 996 / 914" "176941" "https://alphafold.ebi.ac.uk/entry/P29597" "P29597" "HP:0002715; HP:0011274" "Abnormality of the immune system; Recurrent mycobacterial infections" 288.2 "D72" "Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Normal, but multiple cytokine signaling defect" 47 28 996 914 2 1 231 24 5.5004342680325e-06 1.10094398001416e-05 1.10189848989792e-05 8.25493703408707e-06 1.10142123495604e-05 "6. IID" "2. Epidermodysplasia verruciformis (HPV)" "CIB1 deficiency" "CIB1" "AR" 2 "1 / 0 / 37 / 4" "14 / 8 / 147 / 178" "618267" "https://alphafold.ebi.ac.uk/entry/Q99828" "Q99828" "HP:0002715; HP:0020114" "Abnormality of the immune system; Persistent human papillomavirus infection" 279.9 "D89.9" "HPV (group B1) infections and cancer of the skin (typical EV)" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Keratinocytes" 14 8 147 178 1 0 37 4 3.25952977855363e-07 3.25952977855363e-07 3.25952977855363e-07 3.25952977855363e-07 3.25952977855363e-07 "6. IID" "2. Epidermodysplasia verruciformis (HPV)" "WHIM (Warts, Hypogammaglobulinemia, infections, Myelokathexis) syndrome" "CXCR4" "AD" 2 "1 / 1 / 30 / 2" "32 / 8 / 193 / 158" "162643" "https://alphafold.ebi.ac.uk/entry/P61073" "P61073" "HP:0002715; HP:0020114" "Abnormality of the immune system; Persistent human papillomavirus infection" 279.9 "D89.9" "Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia" "variable" "variable" "variable" "variable" NA "6. Defects in intrinsic and innate immunity" "GOF" "Variable" "Variable" "Variable" "Variable" "Granulocytes + Lymphocytes" 32 8 193 158 1 1 30 2 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 "6. IID" "2. Epidermodysplasia verruciformis (HPV)" "EVER1 deficiency" "TMC6" "AR" 7 "3 / 3 / 193 / 20" "49 / 10 / 694 / 854" "605828" "https://alphafold.ebi.ac.uk/entry/Q7Z403" "Q7Z403" "HP:0002715; HP:0020114" "Abnormality of the immune system; Persistent human papillomavirus infection" 279.9 "D89.9" "Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV)" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Keratinocytes and leukocytes" 49 10 694 854 3 3 193 20 7.53837069312828e-06 1.50788349578958e-05 0.000120637066959623 9.42610841943513e-06 2.07286399744669e-05 "6. IID" "2. Epidermodysplasia verruciformis (HPV)" "EVER2 deficiency" "TMC8" "AR" 8 "3 / 4 / 137 / 19" "50 / 18 / 591 / 628" "605829" "https://alphafold.ebi.ac.uk/entry/Q8IU68" "Q8IU68" "HP:0002715; HP:0020114" "Abnormality of the immune system; Persistent human papillomavirus infection" 279.9 "D89.9" "HPV (group B1) infections and cancer of the skin (typical EV)" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Keratinocytes and leukocytes" 50 18 591 628 3 4 137 19 9.11792168402586e-06 9.13147227027616e-06 7.29715838674043e-05 9.12194104338809e-06 5.01698399496606e-05 "6. IID" "3. Predisposition to Severe Viral Infection" "CD16 deficiency" "FCGR3A" "AR" 0 "0 / 0 / 12 / 3" "0 / 0 / 64 / 24" "146740" "https://alphafold.ebi.ac.uk/entry/P08637" "P08637" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "NK cell dysfunction" 0 0 64 24 0 0 12 3 0 0 0 0 0 "6. IID" "3. Predisposition to Severe Viral Infection" "MDA5 deficiency (LOF)" "IFIH1" "AR" 3 "1 / 1 / 214 / 79" "52 / 24 / 1847 / 1209" "606951" "https://alphafold.ebi.ac.uk/entry/Q9BYX4" "Q9BYX4" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Rhinovirus and other RNA viruses" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Somatic and hematopoietic" 52 24 1847 1209 1 1 214 79 1.75519163274785e-05 1.75519163274785e-05 1.75519163274785e-05 1.75519163274785e-05 1.75519163274785e-05 "6. IID" "3. Predisposition to Severe Viral Infection" "IFNAR1 deficiency" "IFNAR1" "AR" 4 "2 / 1 / 64 / 6" "30 / 17 / 310 / 260" NA "https://alphafold.ebi.ac.uk/entry/P17181" "P17181" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe disease caused by Yellow Fever vaccine and Measles vaccine, severe COVID-19" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 30 17 310 260 2 1 64 6 2.88102064172186e-06 5.75973840310921e-06 8.63781351612723e-06 4.32037952241554e-06 7.19877595961822e-06 "6. IID" "3. Predisposition to Severe Viral Infection" "IFNAR2 deficiency" "IFNAR2" "AR" 4 "2 / 1 / 68 / 11" "19 / 6 / 275 / 282" "602376" "https://alphafold.ebi.ac.uk/entry/P48551" "P48551" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe viral infections (disseminated vaccine-strain measles, HHV6), severe COVID-19" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Broadly expressed" 19 6 275 282 2 1 68 11 1.01875208449464e-05 1.01936771889027e-05 5.09675217264683e-05 1.01905990169245e-05 3.05805994576855e-05 "6. IID" "3. Predisposition to Severe Viral Infection" "IRF7 deficiency" "IRF7" "AR" 1 "1 / 0 / 110 / 6" "2 / 0 / 812 / 572" "605047" "https://alphafold.ebi.ac.uk/entry/Q92985" "Q92985" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe influenza and COVID-19" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Leukocytes, plasmacytoid dendritic cells, Non-hematopoietic cells" 2 0 812 572 1 0 110 6 1.74218148881017e-05 1.74218148881017e-05 1.74218148881017e-05 1.74218148881017e-05 1.74218148881017e-05 "6. IID" "3. Predisposition to Severe Viral Infection" "IRF9 deficiency" "IRF9" "AR" 1 "0 / 0 / 36 / 7" "0 / 0 / 238 / 200" NA "https://alphafold.ebi.ac.uk/entry/Q00978" "Q00978" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe influenza disease" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 0 0 238 200 0 0 36 7 0 0 0 0 0 "6. IID" "3. Predisposition to Severe Viral Infection" "NOS2 deficiency" "NOS2" "AR" 0 "0 / 0 / 20 / 7" "0 / 0 / 184 / 111" NA "https://alphafold.ebi.ac.uk/entry/P35228" "P35228" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" NA "low" "low" NA "normal" NA "6. Defects in intrinsic and innate immunity" NA "Low CD4 T cells" "Low" NA "Normal" NA 0 0 184 111 0 0 20 7 0 0 0 0 0 "6. IID" "3. Predisposition to Severe Viral Infection" "OAS1 deficiency" "OAS1" "AR" 1 "1 / 0 / 67 / 27" "2 / 2 / 332 / 332" NA "https://alphafold.ebi.ac.uk/entry/P00973" "P00973" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "MISC" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 2 2 332 332 1 0 67 27 6.56861907921098e-06 6.56861907921098e-06 6.56861907921098e-06 6.56861907921098e-06 6.56861907921098e-06 "6. IID" "3. Predisposition to Severe Viral Infection" "OAS2 deficiency" "OAS2" "AR" NA NA "0 / 0 / 94 / 25" NA "https://alphafold.ebi.ac.uk/entry/P29728" "P29728" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "MISC" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 0 0 94 25 NA NA NA NA 0 0 0 0 0 "6. IID" "3. Predisposition to Severe Viral Infection" "RNA polymerase III deficiency due to POLR3A defects" "POLR3A" "AD" 21 "9 / 6 / 157 / 7" "97 / 88 / 1060 / 1152" NA "https://alphafold.ebi.ac.uk/entry/O14802" "O14802" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe VZV" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 97 88 1060 1152 9 6 157 7 6.57073e-06 1.31401e-05 4.6009e-05 6.57298e-06 1.97138e-05 "6. IID" "3. Predisposition to Severe Viral Infection" "RNA polymerase III deficiency due to POLR3C defects" "POLR3C" "AD" 0 "0 / 0 / 4 / 1" "0 / 0 / 88 / 14" NA "https://alphafold.ebi.ac.uk/entry/Q9BUI4" "Q9BUI4" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe VZV" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 88 14 0 0 4 1 0 0 0 0 0 "6. IID" "3. Predisposition to Severe Viral Infection" "RNA polymerase III deficiency due to POLR3F defects" "POLR3F" "AD" 1 "1 / 0 / 16 / 2" "2 / 0 / 180 / 114" NA "https://alphafold.ebi.ac.uk/entry/Q9H1D9" "Q9H1D9" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe VZV" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 2 0 180 114 1 0 16 2 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 "6. IID" "3. Predisposition to Severe Viral Infection" "RNASEL deficiency" "RNASEL" "AR" NA NA "2 / 4 / 214 / 40" NA "https://alphafold.ebi.ac.uk/entry/Q05823" "Q05823" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "MISC" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 2 4 214 40 NA NA NA NA 0 0 0 0 0 "6. IID" "3. Predisposition to Severe Viral Infection" "STAT1 deficiency (AR LOF)" "STAT1" "AR" 3 "1 / 1 / 37 / 1" "108 / 70 / 534 / 664" "600555" "https://alphafold.ebi.ac.uk/entry/P42224" "P42224" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe viral infections, mycobacterial infection" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "T and NK cells and monocytes" 108 70 534 664 1 1 37 1 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 "6. IID" "3. Predisposition to Severe Viral Infection" "STAT2 deficiency" "STAT2" "AR" 7 "6 / 1 / 92 / 8" "54 / 6 / 458 / 498" "600556" "https://alphafold.ebi.ac.uk/entry/P52630" "P52630" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "Severe viral infections (disseminated vaccine-strain measles)" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "T and NK cells" 54 6 458 498 6 1 92 8 1.82183678209714e-06 3.64486001151145e-06 3.64716186082505e-06 1.82321369331846e-06 3.64567813869181e-06 "6. IID" "3. Predisposition to Severe Viral Infection" "TLR7 deficiency" "TLR7" "XL" 1 "1 / 0 / 29 / 7" "8 / 0 / 290 / 240" NA "https://alphafold.ebi.ac.uk/entry/Q9NYK1" "Q9NYK1" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "COVID-19 susceptibility" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 8 0 290 240 1 0 29 7 3.38655287791321e-06 3.38655287791321e-06 3.38655287791321e-06 3.38655287791321e-06 3.38655287791321e-06 "6. IID" "3. Predisposition to Severe Viral Infection" "ZNFX1 deficiency" "ZNFX1" "AR" 1 "1 / 0 / 33 / 6" "16 / 2 / 302 / 58" NA "https://alphafold.ebi.ac.uk/entry/Q9P2E3" "Q9P2E3" "HP:0002715; HP:0031691" "Abnormality of the immune system; Severe viral infection" 279.9 "D89.9" "severe infections by RNA/DNA viruses, early-onset, systemic, severe, acute inflammation with major dysfunctions of liver, brain, kidneys, lungs. Virally triggered inflammatory episodes (HLH, intermittent monocytosis, thrombocytopenia, hepatosplenomegaly, lymphadenopathy. Mycobacterial disease (BCGosis, disseminated TB). High mortality. Increased ISG in response to poly I/C" "low" "normal" "normal" NA NA "6. Defects in intrinsic and innate immunity" NA "Normal lymphocyte numbers, intact T cell function" "Low" "Normal" NA NA 16 2 302 58 1 0 33 6 1.37889857310839e-07 1.37889857310839e-07 1.37889857310839e-07 1.37889857310839e-07 1.37889857310839e-07 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "ATG4A" "ATG4A" "AD" 0 "0 / 0 / 6 / 1" "0 / 0 / 32 / 16" NA "https://alphafold.ebi.ac.uk/entry/Q8WYN0" "Q8WYN0" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Mollaret's meningitis HSV2" "normal" NA "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA NA "Normal" "Normal" "Normal" NA 0 0 32 16 0 0 6 1 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "DBR1 deficiency" "DBR1" "AR" 1 "0 / 0 / 30 / 8" "2 / 2 / 213 / 186" NA "https://alphafold.ebi.ac.uk/entry/Q9UK59" "Q9UK59" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "HSE of the brainstem. Other viral infections of the brainstem." "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 2 2 213 186 0 0 30 8 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "GTF3A deficiency" "GTF3A" "AR" 0 "0 / 0 / 4 / 0" "0 / 0 / 36 / 4" NA "https://alphafold.ebi.ac.uk/entry/Q92664" "Q92664" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "HSE" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Fibroblasts" 0 0 36 4 0 0 4 0 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "IKBKE deficiency" "IKBKE" "AD" NA NA "0 / 0 / 94 / 20" NA "https://alphafold.ebi.ac.uk/entry/Q14164" "Q14164" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "HSE" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Microglia" 0 0 94 20 NA NA NA NA 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "IRF3 deficiency" "IRF3" "AD" 2 "0 / 0 / 15 / 3" "0 / 0 / 96 / 46" "616532" "https://alphafold.ebi.ac.uk/entry/Q14653" "Q14653" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 0 0 96 46 0 0 15 3 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "MAP1LC3B2" "MAP1LC3B2" "AD" 0 "0 / 0 / 3 / 0" "0 / 0 / 16 / 6" NA "https://alphafold.ebi.ac.uk/entry/A6NCE7" "A6NCE7" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Mollaret's meningitis HSV2" "normal" NA "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA NA "Normal" "Normal" "Normal" NA 0 0 16 6 0 0 3 0 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "RIPK3 deficiency" "RIPK3" "AR" NA NA "0 / 0 / 64 / 16" NA "https://alphafold.ebi.ac.uk/entry/Q9Y572" "Q9Y572" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "HSE" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Neurons" 0 0 64 16 NA NA NA NA 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "SNORA31 deficiency" "SNORA31" "AD" NA NA "0 / 0 / 8 / 0" NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Forebrain HSE" "normal" NA "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA NA "Normal" "Normal" "Normal" NA 0 0 8 0 NA NA NA NA 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "TBK1 deficiency" "TBK1" "AD" 5 "1 / 1 / 51 / 11" "106 / 38 / 498 / 410" "604834" "https://alphafold.ebi.ac.uk/entry/Q9UHD2" "Q9UHD2" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 106 38 498 410 1 1 51 11 6.56870537385787e-06 6.56870537385787e-06 6.57748e-06 6.56870537385787e-06 6.57309268692893e-06 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "TRIF deficiency" "TICAM1" "AD" 1 "0 / 0 / 109 / 16" "0 / 0 / 455 / 364" "607601" "https://alphafold.ebi.ac.uk/entry/Q8IUC6" "Q8IUC6" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 0 0 455 364 0 0 109 16 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "TRIF deficiency" "TICAM1" "AR" 1 "0 / 0 / 109 / 16" "0 / 0 / 455 / 364" "607601" "https://alphafold.ebi.ac.uk/entry/Q8IUC6" "Q8IUC6" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 0 0 455 364 0 0 109 16 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "TLR3 deficiency" "TLR3" "AR" 1 "0 / 0 / 105 / 13" "0 / 0 / 670 / 336" "603029" "https://alphafold.ebi.ac.uk/entry/O15455" "O15455" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here)" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Central nervous system (CNS) resident cells and fibroblasts" 0 0 670 336 0 0 105 13 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "TLR3 deficiency" "TLR3" "AD" 1 "0 / 0 / 105 / 13" "0 / 0 / 670 / 336" "603029" "https://alphafold.ebi.ac.uk/entry/O15455" "O15455" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here)" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Central nervous system (CNS) resident cells and fibroblasts" 0 0 670 336 0 0 105 13 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "TRAF3 deficiency" "TRAF3" "AD" 0 "0 / 0 / 58 / 2" "11 / 0 / 361 / 418" "601896" "https://alphafold.ebi.ac.uk/entry/Q13114" "Q13114" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 11 0 361 418 0 0 58 2 0 0 0 0 0 "6. IID" "4. Herpes Simplex Encephalitis (HSE)" "UNC93B1 deficiency" "UNC93B1" "AR" 2 "1 / 0 / 77 / 8" "14 / 9 / 378 / 434" "608204" "https://alphafold.ebi.ac.uk/entry/Q9H1C4" "Q9H1C4" "HP:0002715; HP:0012302" "Abnormality of the immune system; Herpes simplex encephalitis" 279.9 "D89.9" "Herpes simplex virus 1 encephalitis, severe COVID-19" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "CNS resident cells and fibroblasts" 14 9 378 434 1 0 77 8 5.72434764523012e-07 5.72434764523012e-07 5.72434764523012e-07 5.72434764523012e-07 5.72434764523012e-07 "6. IID" "5. Predisposition to invasive fungal infections" "CARD9 deficiency" "CARD9" "AR" 6 "4 / 1 / 128 / 9" "33 / 7 / 566 / 530" "607212" "https://alphafold.ebi.ac.uk/entry/Q9H257" "Q9H257" "HP:0002715; HP:0002841; HP:0020100" "Abnormality of the immune system; Recurrent fungal infections; Unusual fungal infection" 279.9 "D89.9" "Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Mononuclear phagocytes" 33 7 566 530 4 1 128 9 5.38826980739949e-06 5.38993244539059e-06 1.07799098694619e-05 5.38993244539059e-06 5.39028526631024e-06 "6. IID" "6. Predisposition to Mucocutaneous Candidiasis" "IL-17F deficiency" "IL17F" "AD" 0 "0 / 0 / 37 / 4" "0 / 0 / 197 / 116" "606496" "https://alphafold.ebi.ac.uk/entry/Q96PD4" "Q96PD4" "HP:0002715; HP:0005401" "Abnormality of the immune system; Recurrent candida infections" 279.9 "D89.9" "CMC, folliculitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "T cells" 0 0 197 116 0 0 37 4 0 0 0 0 0 "6. IID" "6. Predisposition to Mucocutaneous Candidiasis" "IL-17RA deficiency" "IL17RA" "AR" 2 "1 / 1 / 192 / 15" "34 / 20 / 1089 / 808" "605461" "https://alphafold.ebi.ac.uk/entry/Q96F46" "Q96F46" "HP:0002715; HP:0005401" "Abnormality of the immune system; Recurrent candida infections" 279.9 "D89.9" "CMC, folliculitis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Epithelial cells, fibroblasts, mononuclear phagocytes" 34 20 1089 808 1 1 192 15 6.52528616732306e-06 6.52622479681884e-06 6.52716342631461e-06 6.52575548207095e-06 6.52669411156672e-06 "6. IID" "6. Predisposition to Mucocutaneous Candidiasis" "IL-17RC deficiency" "IL17RC" "AR" 2 "1 / 1 / 121 / 24" "2 / 8 / 866 / 670" "610925" "https://alphafold.ebi.ac.uk/entry/Q8NAC3" "Q8NAC3" "HP:0002715; HP:0005401" "Abnormality of the immune system; Recurrent candida infections" 279.9 "D89.9" "CMC" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Epithelial cells, fibroblasts, mononuclear phagocytes" 2 8 866 670 1 1 121 24 2.13096268399017e-05 0.000341001460765972 0.000660693294692042 0.000181155543802937 0.000500847377729007 "6. IID" "6. Predisposition to Mucocutaneous Candidiasis" "MAPK8 deficiency" "MAPK8" "AD" NA NA "0 / 0 / 0 / 46" NA "https://alphafold.ebi.ac.uk/entry/P45983" "P45983" "HP:0002715; HP:0005401" "Abnormality of the immune system; Recurrent candida infections" 279.9 "D89.9" "CMC and Ehlers Danlos" "normal" "low" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Low Th17" "Normal" "Normal" "Normal" NA 0 0 0 46 NA NA NA NA 0 0 0 0 0 "6. IID" "6. Predisposition to Mucocutaneous Candidiasis" "STAT1 GOF" "STAT1" "AD" 3 "1 / 1 / 37 / 1" "108 / 70 / 534 / 664" "600555" "https://alphafold.ebi.ac.uk/entry/P42224" "P42224" "HP:0002715; HP:0005401" "Abnormality of the immune system; Recurrent candida infections" 279.9 "D89.9" "CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy" "variable" "variable" "variable" "normal" NA "6. Defects in intrinsic and innate immunity" "GOF" "Variable" "Variable" "Variable" "Normal" "T cells, B cells, monocytes" 108 70 534 664 1 1 37 1 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 8.1848196385742e-08 "6. IID" "6. Predisposition to Mucocutaneous Candidiasis" "ACT1 deficiency" "TRAF3IP2" "AR" 3 "2 / 1 / 64 / 13" "26 / 10 / 284 / 228" "607043" "https://alphafold.ebi.ac.uk/entry/O43734" "O43734" "HP:0002715; HP:0005401" "Abnormality of the immune system; Recurrent candida infections" 279.9 "D89.9" "CMC, blepharitis, folliculitis and macroglossia" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "T cells, fibroblasts" 26 10 284 228 2 1 64 13 1.33829590162852e-05 1.33913081969945e-05 4.01616027599196e-05 1.33871336066398e-05 2.67764554784571e-05 "6. IID" "7. TLR Signaling Pathway Deficiency" "MD2 deficiency" "LY96" "AR" NA NA "0 / 0 / 10 / 0" NA "https://alphafold.ebi.ac.uk/entry/Q9Y6Y9" "Q9Y6Y9" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "IBD, infections" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Myeloid cells" 0 0 10 0 NA NA NA NA 0 0 0 0 0 "6. IID" "7. TLR Signaling Pathway Deficiency" "TLR4 deficiency" "TLR4" "AR" NA NA "0 / 0 / 105 / 52" NA "https://alphafold.ebi.ac.uk/entry/O00206" "O00206" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "IBD" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 0 0 105 52 NA NA NA NA 0 0 0 0 0 "6. IID" "7. TLR Signaling Pathway Deficiency with Bacterial Susceptibility" "IRAK1 deficiency" "IRAK1" "XL" 0 "0 / 0 / 11 / 5" "0 / 0 / 76 / 60" NA "https://alphafold.ebi.ac.uk/entry/P51617" "P51617" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Lymphocytes + Granulocytes+ Monocytes" 0 0 76 60 0 0 11 5 0 0 0 0 0 "6. IID" "7. TLR Signaling Pathway Deficiency with Bacterial Susceptibility" "IRAK4 disorder" "IRAK4" "AR" 3 "2 / 1 / 49 / 7" "57 / 7 / 340 / 274" NA "https://alphafold.ebi.ac.uk/entry/Q9NWZ3" "Q9NWZ3" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "Neuroinflammation, fever, splenomegaly" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" "GOF" NA NA NA NA NA 57 7 340 274 2 1 49 7 2.11870800147652e-06 2.7583017942927e-05 0.000101694788299482 1.48508629722017e-05 6.46389031212045e-05 "6. IID" "7. TLR Signaling Pathway Deficiency with Bacterial Susceptibility" "IRAK4 deficiency" "IRAK4" "AR" 3 "2 / 1 / 49 / 7" "57 / 7 / 340 / 274" "606883" "https://alphafold.ebi.ac.uk/entry/Q9NWZ3" "Q9NWZ3" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "Bacterial infections (pyogens)" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Lymphocytes + Granulocytes+ Monocytes" 57 7 340 274 2 1 49 7 2.11870800147652e-06 2.7583017942927e-05 0.000101694788299482 1.48508629722017e-05 6.46389031212045e-05 "6. IID" "7. TLR Signaling Pathway Deficiency with Bacterial Susceptibility" "MyD88 deficiency" "MYD88" "AR" 2 "1 / 1 / 28 / 9" "7 / 2 / 151 / 166" "602170" "https://alphafold.ebi.ac.uk/entry/Q99836" "Q99836" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "Bacterial infections (pyogens)" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Lymphocytes + Granulocytes+ Monocytes" 7 2 151 166 1 1 28 9 7.65144409225959e-08 7.65144409225959e-08 7.65144409225959e-08 7.65144409225959e-08 7.65144409225959e-08 "6. IID" "7. TLR Signaling Pathway Deficiency with Bacterial Susceptibility" "TIRAP deficiency" "TIRAP" "AR" 0 "0 / 0 / 1 / 3" "0 / 0 / 20 / 30" "614382" "https://alphafold.ebi.ac.uk/entry/P58753" "P58753" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "Staphylococcal disease during childhood" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Lymphocytes + Granulocytes+ Monocytes" 0 0 20 30 0 0 1 3 0 0 0 0 0 "6. IID" "7. TLR Signaling Pathway Deficiency with Bacterial Susceptibility" "TLR8 disease" "TLR8" "XL" 1 "1 / 0 / 9 / 1" "6 / 0 / 76 / 14" NA "https://alphafold.ebi.ac.uk/entry/Q9NR97" "Q9NR97" "HP:0002715; HP:0002718" "Abnormality of the immune system; Recurrent bacterial infections" 279.9 "D89.9" "Infections, lymphoproliferation, hepatosplenomegaly, lymphadenopathy. Infectious susceptibility, BM failure. Severe chronic AIHA (post-infections), progressive autoinflammatory disease. Proinflammatory phenotype with activated T cells, elevated serum cytokines associated with impaired B-cell maturation" "defective" "normal" "mixed" "low" NA "6. Defects in intrinsic and innate immunity" "GOF" "Normal" "Altered maturation" "Normal to increased" "Neutropenia" "Low pDC" 6 0 76 14 1 0 9 1 1.17978973520912e-07 1.17978973520912e-07 1.17978973520912e-07 1.17978973520912e-07 1.17978973520912e-07 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "Trypanosomiasis susceptibility" "APOL1" "AD" 2 "0 / 0 / 30 / 14" "0 / 0 / 150 / 174" "603743" "https://alphafold.ebi.ac.uk/entry/O14791" "O14791" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Trypanosomiasis" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 150 174 0 0 30 14 0 0 0 0 0 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "CLCN7 deficiency associated osteopetrosis" "CLCN7" "AD" 11 "7 / 3 / 129 / 28" "79 / 90 / 1074 / 1364" "602727" "https://alphafold.ebi.ac.uk/entry/P51798" "P51798" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis with hypocalcemia, neurologic features" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 79 90 1074 1364 7 3 129 28 3.12702989818528e-06 3.13120290338805e-06 1.56358434529241e-05 3.12980536822292e-06 7.81984704015162e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "CLCN7 deficiency associated osteopetrosis" "CLCN7" "AR" 11 "7 / 3 / 129 / 28" "79 / 90 / 1074 / 1364" "602727" "https://alphafold.ebi.ac.uk/entry/P51798" "P51798" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis with hypocalcemia, neurologic features" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 79 90 1074 1364 7 3 129 28 3.12702989818528e-06 3.13120290338805e-06 1.56358434529241e-05 3.12980536822292e-06 7.81984704015162e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "Isolated congenital asplenia (ICA) due to HMOX deficiency" "HMOX1" "AR" 3 "1 / 1 / 45 / 6" "37 / 9 / 188 / 344" "141250" "https://alphafold.ebi.ac.uk/entry/P09601" "P09601" "HP:0001746; HP:0002715" "Asplenia; Abnormality of the immune system" 279.9 "D89.9" "Hemolysis, nephritis, inflammation, HLH, lung disease" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "No spleen, Macrophages" 37 9 188 344 1 1 45 6 6.280909799736e-07 6.28325870188862e-07 1.88524251784291e-06 6.28208425081231e-07 1.25678419401589e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "Acute liver failure due to NBAS deficiency" "NBAS" "AR" 27 "15 / 7 / 396 / 132" "245 / 174 / 2109 / 2676" "608025" "https://alphafold.ebi.ac.uk/entry/A2RRP1" "A2RRP1" "HP:0002715; HP:0006554" "Abnormality of the immune system; Acute hepatic failure" 279.9 "D89.9" "Fever induces liver failure" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Somatic and hematopoietic" 245 174 2109 2676 15 7 396 132 1.78514020830627e-05 3.57124436427208e-05 0.000107187367322659 1.78621874833727e-05 5.35473456088805e-05 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "NCSTN deficiency hidradenitis suppurativa" "NCSTN" "AD" 2 "1 / 1 / 67 / 6" "28 / 9 / 484 / 430" "605254" "https://alphafold.ebi.ac.uk/entry/Q92542" "Q92542" "HP:0002715; HP:0040154" "Abnormality of the immune system; Acne inversa" 279.9 "D89.9" "Hidradenitis suppurativa with acne" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Epidermis" 28 9 484 430 1 1 67 6 6.56836020887385e-06 6.56836020887385e-06 6.56836020887385e-06 6.56836020887385e-06 6.56836020887385e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "OSTM1 deficiency associated osteopetrosis" "OSTM1" "AR" 1 "1 / 0 / 47 / 2" "46 / 8 / 307 / 380" " 607649" "https://alphafold.ebi.ac.uk/entry/Q86WC4" "Q86WC4" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis with hypocalcemia, neurologic features" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 46 8 307 380 1 0 47 2 6.28662264314677e-07 6.28662264314677e-07 6.28662264314677e-07 6.28662264314677e-07 6.28662264314677e-07 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "PLEKHM1 deficiency associated osteopetrosis" "PLEKHM1" "AR" 1 "1 / 0 / 25 / 1" "6 / 2 / 178 / 58" " 611466" "https://alphafold.ebi.ac.uk/entry/Q9Y4G2" "Q9Y4G2" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 6 2 178 58 1 0 25 1 2.60546254630733e-08 2.60546254630733e-08 2.60546254630733e-08 2.60546254630733e-08 2.60546254630733e-08 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "PSEN deficiency hidradenitis suppurativa" "PSEN" "AD" NA NA NA "104311" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002715; HP:0040154" "Abnormality of the immune system; Acne inversa" 279.9 "D89.9" "Hidradenitis suppurative with cutaneous hyperpigmentation" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Epidermis" NA NA NA NA NA NA NA NA 0 0 0 0 0 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "PSENEN deficiency hidradenitis suppurativa" "PSENEN" "AD" 1 "1 / 0 / 4 / 0" "15 / 0 / 44 / 50" "607632" "https://alphafold.ebi.ac.uk/entry/Q9NZ42" "Q9NZ42" "HP:0002715; HP:0040154" "Abnormality of the immune system; Acne inversa" 279.9 "D89.9" "Hidradenitis suppurativa" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Epidermis" 15 0 44 50 1 0 4 0 6.57587574225197e-06 6.57587574225197e-06 6.57587574225197e-06 6.57587574225197e-06 6.57587574225197e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "Acute necrotizing encephalopathy" "RANBP2" "AD" 2 "0 / 1 / 262 / 53" "0 / 8 / 1434 / 738" "601181" "https://alphafold.ebi.ac.uk/entry/P49792" "P49792" "HP:0002715; HP:0006965" "Abnormality of the immune system; Acute necrotizing encephalopathy" 279.9 "D89.9" "Fever induces acute encephalopathy" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "Ubiquitous expression" 0 8 1434 738 0 1 262 53 6.56741119218215e-06 6.56741119218215e-06 6.56741119218215e-06 6.56741119218215e-06 6.56741119218215e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "Isolated congenital asplenia (ICA) due to RPSA deficiency" "RPSA" "AD" 2 "1 / 1 / 8 / 2" "12 / 2 / 124 / 154" "271400" "https://alphafold.ebi.ac.uk/entry/P08865" "P08865" "HP:0001746; HP:0002715" "Asplenia; Abnormality of the immune system" 279.9 "D89.9" "Bacteremia (encapsulated bacteria)" "normal" "normal" "normal" "normal" NA "6. Defects in intrinsic and innate immunity" NA "Normal" "Normal" "Normal" "Normal" "No spleen" 12 2 124 154 1 1 8 2 6.56930949987847e-06 6.56930949987847e-06 6.56930949987847e-06 6.56930949987847e-06 6.56930949987847e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "SNX10 deficiency associated osteopetrosis" "SNX10" "AR" 5 "3 / 1 / 22 / 0" "19 / 17 / 128 / 140" " 614780" "https://alphafold.ebi.ac.uk/entry/Q9Y5X0" "Q9Y5X0" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis with visual impairment" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 19 17 128 140 3 1 22 0 9.20128656710407e-09 9.20881788928462e-09 1.83414681316254e-08 9.20676847225309e-09 1.83206148589427e-08 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "TCIRG1 deficiency associated osteopetrosis" "TCIRG1" "AR" 19 "11 / 5 / 203 / 17" "199 / 201 / 1105 / 1572" "604592" "https://alphafold.ebi.ac.uk/entry/Q13488" "Q13488" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis with hypocalcemia" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 199 201 1105 1572 11 5 203 17 1.27839220243477e-06 1.27970231139168e-06 3.70699020333864e-05 1.27881268317969e-06 5.75432767854124e-06 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "TNFRSF11A deficiency associated osteopetrosis" "TNFRSF11A" "AR" 3 "1 / 2 / 101 / 9" "41 / 22 / 846 / 494" " 603499" "https://alphafold.ebi.ac.uk/entry/Q9Y6Q6" "Q9Y6Q6" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Osteoclasts" 41 22 846 494 1 2 101 9 9.44068303467136e-06 9.44583717750927e-06 1.88863549563094e-05 9.44326010609031e-06 1.41660960669094e-05 "6. IID" "8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues" "TNFSF11 deficiency associated osteopetrosis" "TNFSF11" "AR" 2 "1 / 1 / 42 / 4" "8 / 2 / 241 / 235" "602642" "https://alphafold.ebi.ac.uk/entry/O14788" "O14788" "HP:0002715; HP:0011002" "Abnormality of the immune system; Osteopetrosis" 279.9 "D89.9" "Osteopetrosis with severe growth retardation" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA "Stromal" 8 2 241 235 1 1 42 4 5.14753842392058e-07 5.14753842392058e-07 5.14753842392058e-07 5.14753842392058e-07 5.14753842392058e-07 "6. IID" "9. Other inborn errors of immunity related to leukocytes" "IL-18BP deficiency" "IL18BP" "AR" 0 "0 / 0 / 33 / 7" "0 / 0 / 258 / 90" NA "https://alphafold.ebi.ac.uk/entry/O95998" "O95998" "HP:0002715; HP:0012115" "Abnormality of the immune system; Hepatitis" 279.9 "D89.9" "Fulminant viral hepatitis" NA NA NA NA NA "6. Defects in intrinsic and innate immunity" NA NA NA NA NA NA 0 0 258 90 0 0 33 7 0 0 0 0 0 "6. IID" "9. Other inborn errors of immunity related to leukocytes" "IRF4 haplosufficiency" "IRF4" "AD" 0 "0 / 0 / 38 / 3" "7 / 0 / 275 / 344" NA "https://alphafold.ebi.ac.uk/entry/Q15306" "Q15306" "HP:0002715; HP:0012115" "Abnormality of the immune system; Hepatitis" 279.9 "D89.9" "Whipple’s disease" NA "low" NA NA NA "6. Defects in intrinsic and innate immunity" NA "Low CD4 and CD8" NA NA NA NA 7 0 275 344 0 0 38 3 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)" "ACP5" "AR" 7 "3 / 2 / 77 / 11" "62 / 2 / 305 / 250" "171640" "https://alphafold.ebi.ac.uk/entry/P13686" "P13686" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 62 2 305 250 3 2 77 11 3.49545244084931e-06 1.04866302846853e-05 1.39967718321085e-05 3.49740754624413e-06 1.04869760685572e-05 "7. AID" "1. Type 1 Interferonopathies" "ADA2 deficiency" "ADA2" "AR" 14 "6 / 2 / 92 / 5" "92 / 45 / 539 / 412" "607575" "https://alphafold.ebi.ac.uk/entry/Q9NZK5" "Q9NZK5" "HP:0001297; HP:0002633; HP:0002715" "Stroke; Vasculitis; Abnormality of the immune system" 279.9 "D89.9" "Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 92 45 539 412 6 2 92 5 5.31177260877922e-06 3.18645398000396e-05 0.000318431982848782 1.19503971500727e-05 4.11602040830343e-05 "7. AID" "1. Type 1 Interferonopathies" "ADAR1 deficiency, AGS6" "ADAR1" "AR" NA NA NA "146920" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS, BSN, SP" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "ATAD3A deficiency" "ATAD3A" "AD" 7 "2 / 4 / 51 / 8" "22 / 34 / 445 / 155" NA "https://alphafold.ebi.ac.uk/entry/Q9NVI7" "Q9NVI7" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Predominantly neuro defects (development delay, spasticity), elevated ISG expression, increased serum type 1 IFNs" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 22 34 445 155 2 4 51 8 8.43416237136709e-07 2.53080889916266e-06 2.53206725259453e-06 2.11166602045596e-06 2.53137387417729e-06 "7. AID" "1. Type 1 Interferonopathies" "ATAD3A deficiency" "ATAD3A" "AR" 7 "2 / 4 / 51 / 8" "22 / 34 / 445 / 155" NA "https://alphafold.ebi.ac.uk/entry/Q9NVI7" "Q9NVI7" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Predominantly neuro defects (development delay, spasticity), elevated ISG expression, increased serum type 1 IFNs" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 22 34 445 155 2 4 51 8 8.43416237136709e-07 2.53080889916266e-06 2.53206725259453e-06 2.11166602045596e-06 2.53137387417729e-06 "7. AID" "1. Type 1 Interferonopathies" "C2orf69 deficiency" "C2orf69" "AR" 1 "1 / 0 / 2 / 1" "14 / 2 / 10 / 20" NA "https://alphafold.ebi.ac.uk/entry/Q8N8R5" "Q8N8R5" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Brain abnormalities (hypomyelination, microcephaly), liver dysfunction, severe and recurrent autoinflammation, leukoencephalopathy with recurrent seizures. Often fatal" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 14 2 10 20 1 0 2 1 3.7551206013979e-09 3.7551206013979e-09 3.7551206013979e-09 3.7551206013979e-09 3.7551206013979e-09 "7. AID" "1. Type 1 Interferonopathies" "CDC42 defects" "CDC42" "AD" 0 "0 / 0 / 1 / 0" "18 / 21 / 66 / 137" NA "https://alphafold.ebi.ac.uk/entry/P60953" "P60953" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Neonatal onset pancytopenia, fever, rash, HSM, HLH, myelofibrosis, developemntal delay, FTT. Recognized mutation-phenotype associations" "variable" "variable" "variable" NA NA "7. Autoinflammatory Disorders" NA "Variable T cell counts" "Variable" "Variable" NA "Low NK function" 18 21 66 137 0 0 1 0 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "DNASE1L3 deficiency" "DNASE1L3" "AR" 1 "0 / 1 / 53 / 8" "12 / 13 / 246 / 242" "602244" "https://alphafold.ebi.ac.uk/entry/Q13609" "Q13609" "HP:0002514; HP:0002633; HP:0002721" "Cerebral calcification; Vasculitis; Immunodeficiency" 279.9 "D81.8" "Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 12 13 246 242 0 1 53 8 8.97792825320669e-07 8.97792825320669e-07 8.97792825320669e-07 8.97792825320669e-07 8.97792825320669e-07 "7. AID" "1. Type 1 Interferonopathies" "DNASE2 deficiency" "DNASE2" "AR" 1 "1 / 0 / 41 / 4" "6 / 0 / 182 / 160" "126350" "https://alphafold.ebi.ac.uk/entry/O00115" "O00115" "HP:0002514; HP:0002633; HP:0002721" "Cerebral calcification; Vasculitis; Immunodeficiency" 279.9 "D89.9" "Glomerulonephritis, arthropathy, vasculitis" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 6 0 182 160 1 0 41 4 1.7217449424686e-07 1.7217449424686e-07 1.7217449424686e-07 1.7217449424686e-07 1.7217449424686e-07 "7. AID" "1. Type 1 Interferonopathies" "Aicardi-Goutieres syndrome 7 (AGS7)" "IFIH1" "AD" 3 "1 / 1 / 214 / 79" "52 / 24 / 1847 / 1209" "606951" "https://alphafold.ebi.ac.uk/entry/Q9BYX4" "Q9BYX4" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS, SLE, SP, SMS" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" NA 52 24 1847 1209 1 1 214 79 1.75519163274785e-05 1.75519163274785e-05 1.75519163274785e-05 1.75519163274785e-05 1.75519163274785e-05 "7. AID" "1. Type 1 Interferonopathies" "LSM11 deficiency" "LSM11" "AR" 1 "1 / 0 / 9 / 0" "2 / 0 / 88 / 18" "619486" "https://alphafold.ebi.ac.uk/entry/P83369" "P83369" NA NA NA NA "AGS, Type I interferon in fibroblasts" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 2 0 88 18 1 0 9 0 3.16558267851259e-09 3.16558267851259e-09 3.16558267851259e-09 3.16558267851259e-09 3.16558267851259e-09 "7. AID" "1. Type 1 Interferonopathies" "OAS1 GOF" "OAS1" "AD" 1 "1 / 0 / 67 / 27" "2 / 2 / 332 / 332" "164350" "https://alphafold.ebi.ac.uk/entry/P00973" "P00973" "HP:0002514; HP:0002721; HP:0006517" "Cerebral calcification; Immunodeficiency; Intraalveolar phospholipid accumulation" 279.9 "D89.9" "Pulmonary alveolar proteinosis, skin rash" NA NA NA NA NA "7. Autoinflammatory Disorders" "GOF" NA NA NA NA NA 2 2 332 332 1 0 67 27 6.56861907921098e-06 6.56861907921098e-06 6.56861907921098e-06 6.56861907921098e-06 6.56861907921098e-06 "7. AID" "1. Type 1 Interferonopathies" "RELA interferonopathy" "RELA" "AD" 3 "1 / 1 / 51 / 8" "50 / 12 / 394 / 422" "618287" "https://alphafold.ebi.ac.uk/entry/Q04206" "Q04206" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Type I interferon signature, mucocutaneous ulcers, feerts, cytopenias, IBD" NA NA NA NA NA "7. Autoinflammatory Disorders" "DN" NA NA NA NA NA 50 12 394 422 1 1 51 8 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 "7. AID" "1. Type 1 Interferonopathies" "RNASEH2A deficiency, AGS4" "RNASEH2A" "AR" 4 "1 / 2 / 78 / 5" "35 / 36 / 427 / 526" "606034" "https://alphafold.ebi.ac.uk/entry/O75792" "O75792" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 35 36 427 526 1 2 78 5 1.14136803813609e-06 1.14209548359991e-06 4.57104988460022e-06 1.14188038825971e-06 1.99936731782423e-06 "7. AID" "1. Type 1 Interferonopathies" "RNASEH2B deficiency, AGS2" "RNASEH2B" "AR" 10 "5 / 3 / 64 / 6" "44 / 48 / 401 / 512" "610326" "https://alphafold.ebi.ac.uk/entry/Q5TBB1" "Q5TBB1" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS, SP" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 44 48 401 512 5 3 64 6 1.00531542847514e-07 1.51014331672767e-07 2.01212416825984e-05 1.00670142176194e-07 2.7632968542425e-07 "7. AID" "1. Type 1 Interferonopathies" "RNASEH2C deficiency, AGS3" "RNASEH2C" "AR" 3 "1 / 1 / 41 / 8" "2 / 10 / 364 / 388" "610330" "https://alphafold.ebi.ac.uk/entry/Q8TDP1" "Q8TDP1" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 2 10 364 388 1 1 41 8 4.762676755172e-08 4.76380686961304e-08 1.426344318729e-07 4.76324181239252e-08 9.51362502845152e-08 "7. AID" "1. Type 1 Interferonopathies" "RNU7-1 deficiency" "RNU7-1" "AR" NA NA "5 / 2 / 16 / 6" " 619487" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "AGS, Type I interferon in fibroblasts" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 5 2 16 6 NA NA NA NA 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "SAMHD1 deficiency, AGS5" "SAMHD1" "AR" 19 "12 / 4 / 90 / 1" "178 / 68 / 655 / 898" "606754" "https://alphafold.ebi.ac.uk/entry/Q9Y3Z3" "Q9Y3Z3" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS, FCL" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 178 68 655 898 12 4 90 1 6.60187476327666e-08 6.60759870392645e-08 4.60462596157622e-07 6.60434007533061e-08 1.32007127561317e-07 "7. AID" "1. Type 1 Interferonopathies" "STAT2 GOF" "STAT2" "AR" 7 "6 / 1 / 92 / 8" "54 / 6 / 458 / 498" NA "https://alphafold.ebi.ac.uk/entry/P52630" "P52630" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Severe fatal early onset autoinflammation (skin ulceration, fever, seizures, intracranial calcification, multiorgan dysfunction, abnormal neurodevelopment; phenocopy of USP18 deficiency)." NA "variable" "mixed" NA NA "7. Autoinflammatory Disorders" "GOF" "Variable" NA "Low to normal" NA "Variable NK counts" 54 6 458 498 6 1 92 8 1.82183678209714e-06 3.64486001151145e-06 3.64716186082505e-06 1.82321369331846e-06 3.64567813869181e-06 "7. AID" "1. Type 1 Interferonopathies" "Pansclerotic morphea" "STAT4" "AD" 0 "0 / 0 / 49 / 4" "4 / 2 / 391 / 462" "620443" "https://alphafold.ebi.ac.uk/entry/Q14765" "Q14765" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Skin sclerosis, poor wound healing, mucosal ulcers" NA "low" NA NA NA "7. Autoinflammatory Disorders" "GOF" "Low CD4 T cells" NA NA NA NA 4 2 391 462 0 0 49 4 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "STING-associated vasculopathy, infantile-onset" "STING1" "AD" NA NA "12 / 4 / 426 / 260" "612374" "https://alphafold.ebi.ac.uk/entry/Q86WV6" "Q86WV6" "HP:0002633; HP:0002715" "Vasculitis; Abnormality of the immune system" 279.9 "D89.9" "Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL" NA NA NA NA NA "7. Autoinflammatory Disorders" "GOF" NA NA NA NA NA 12 4 426 260 NA NA NA NA 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "STING-like disease" "STING1" "AR" NA NA "12 / 4 / 426 / 260" NA "https://alphafold.ebi.ac.uk/entry/Q86WV6" "Q86WV6" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Failure to thrive; early onset rash, fever, dyspnea, interstitial lung disease/pneumonitis, polyarthritis, autoAbs, clubbing. Increased inflammatory markers, IFN gene signature. Phenocopy of SAVI due to AD GOF TMEM173 variants. 2 patients succumbed; 4 successfully treated with JAK inhibitors" NA NA "high" NA NA "7. Autoinflammatory Disorders" "GOF" NA NA "Increased" NA NA 12 4 426 260 NA NA NA NA 0 0 0 0 0 "7. AID" "1. Type 1 Interferonopathies" "TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)" "TREX1" "AD" 4 "2 / 1 / 88 / 2" "71 / 50 / 702 / 294" "606609" "https://alphafold.ebi.ac.uk/entry/Q9NSU2" "Q9NSU2" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS, SLE, FCL" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 71 50 702 294 2 1 88 2 7.5658849735056e-08 7.56841918181065e-08 3.02218538505038e-07 7.56763884069499e-08 1.32319246380233e-07 "7. AID" "1. Type 1 Interferonopathies" "TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)" "TREX1" "AR" 4 "2 / 1 / 88 / 2" "71 / 50 / 702 / 294" "606609" "https://alphafold.ebi.ac.uk/entry/Q9NSU2" "Q9NSU2" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "Classical AGS, SLE, FCL" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 71 50 702 294 2 1 88 2 7.5658849735056e-08 7.56841918181065e-08 3.02218538505038e-07 7.56763884069499e-08 1.32319246380233e-07 "7. AID" "1. Type 1 Interferonopathies" "USP18 deficiency" "USP18" "AR" 2 "1 / 0 / 7 / 3" "3 / 4 / 54 / 34" "607057" "https://alphafold.ebi.ac.uk/entry/Q9UMW8" "Q9UMW8" "HP:0002514; HP:0002721" "Cerebral calcification; Immunodeficiency" 279.9 "D89.9" "TORCH like syndrome" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 3 4 54 34 1 0 7 3 1.20210737056731e-07 1.20210737056731e-07 1.20210737056731e-07 1.20210737056731e-07 1.20210737056731e-07 "7. AID" "2. Defects Affecting the Inflammasome" "Familial Mediterranean fever" "MEFV" "AR" 9 "4 / 2 / 231 / 12" "16 / 11 / 1590 / 976" "249100" "https://alphafold.ebi.ac.uk/entry/O15553" "O15553" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 277.31 "M04.1" "Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Mature granulocytes, cytokine-activated monocytes." 16 11 1590 976 4 2 231 12 1.47315250896906e-05 0.000103152649769463 0.00322692990163503 2.94726496614491e-05 0.000235783178749911 "7. AID" "2. Defects Affecting the Inflammasome" "Familial Mediterranean fever" "MEFV" "AD" 9 "4 / 2 / 231 / 12" "16 / 11 / 1590 / 976" "249100" "https://alphafold.ebi.ac.uk/entry/O15553" "O15553" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 277.31 "M04.1" "Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease. Usually M694del variant." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Mature granulocytes, cytokine-activated monocytes." 16 11 1590 976 4 2 231 12 1.47315250896906e-05 0.000103152649769463 0.00322692990163503 2.94726496614491e-05 0.000235783178749911 "7. AID" "2. Defects Affecting the Inflammasome" "Mevalonate kinase deficiency (Hyper IgD syndrome)" "MVK" "AR" 22 "13 / 3 / 61 / 4" "104 / 65 / 613 / 624" "260920" "https://alphafold.ebi.ac.uk/entry/Q03426" "Q03426" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.1" "Periodic fever and leukocytosis with high IgD levels" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" " Somatic and hemaotpoietic" 104 65 613 624 13 3 61 4 1.54459792631739e-06 3.09006423148608e-06 4.47800770841218e-05 1.54528280704048e-06 7.73307653796175e-06 "7. AID" "2. Defects Affecting the Inflammasome" "NLRC4 (GOF)-MAS (macrophage activating syndrome) or familial cold autoinflammatory syndrome 4" "NLRC4" "AD" 2 "1 / 1 / 123 / 17" "12 / 14 / 1081 / 536" "616115" "https://alphafold.ebi.ac.uk/entry/Q9NPP4" "Q9NPP4" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.2" "Severe enterocolitis and macrophage activation syndrome" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "PMNs monocytes macrophages" 12 14 1081 536 1 1 123 17 6.56766998771846e-06 6.56766998771846e-06 6.56766998771846e-06 6.56766998771846e-06 6.56766998771846e-06 "7. AID" "2. Defects Affecting the Inflammasome" "NLRP1 deficiency" "NLRP1" "AR" 2 "1 / 1 / 211 / 36" "8 / 2 / 1321 / 834" "606579" "https://alphafold.ebi.ac.uk/entry/Q9C000" "Q9C000" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.8" "Dyskeratosis, autoimmunity and arthritis" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "leukocytes" 8 2 1321 834 1 1 211 36 2.13811351681106e-05 2.13811351681106e-05 2.13811351681106e-05 2.13811351681106e-05 2.13811351681106e-05 "7. AID" "2. Defects Affecting the Inflammasome" "NLRP1 GOF" "NLRP1" "AD" 2 "1 / 1 / 211 / 36" "8 / 2 / 1321 / 834" "615225" "https://alphafold.ebi.ac.uk/entry/Q9C000" "Q9C000" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.8" "Palmoplantar carcinoma, corneal scarring" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "Keratinocytes" 8 2 1321 834 1 1 211 36 2.13811351681106e-05 2.13811351681106e-05 2.13811351681106e-05 2.13811351681106e-05 2.13811351681106e-05 "7. AID" "2. Defects Affecting the Inflammasome" "Familial cold autoinflammatory syndrome 2" "NLRP12" "AD" 2 "1 / 1 / 267 / 30" "6 / 20 / 1753 / 811" "611762" "https://alphafold.ebi.ac.uk/entry/P59046" "P59046" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.2" "Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "PMNs, monocytes" 6 20 1753 811 1 1 267 30 6.56996e-06 6.571295e-06 6.57263e-06 6.5706275e-06 6.5719625e-06 "7. AID" "2. Defects Affecting the Inflammasome" "Muckle-Wells syndrome" "NLRP3" "AD" 3 "1 / 1 / 138 / 5" "54 / 50 / 1360 / 768" "191900" "https://alphafold.ebi.ac.uk/entry/Q96P20" "Q96P20" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.1" "Urticaria, SNHL, amyloidosis." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "PMNs Monocytes" 54 50 1360 768 1 1 138 5 6.56792880365177e-06 6.56792880365177e-06 6.57479e-06 6.56792880365177e-06 6.57135940182588e-06 "7. AID" "2. Defects Affecting the Inflammasome" "Familial cold autoinflammatory syndrome 1" "NLRP3" "AD" 3 "1 / 1 / 138 / 5" "54 / 50 / 1360 / 768" "120100" "https://alphafold.ebi.ac.uk/entry/Q96P20" "Q96P20" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.2" "Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "PMNs, monocytes" 54 50 1360 768 1 1 138 5 6.56792880365177e-06 6.56792880365177e-06 6.57479e-06 6.56792880365177e-06 6.57135940182588e-06 "7. AID" "2. Defects Affecting the Inflammasome" "Neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular syndrome (CINCA)" "NLRP3" "AD" 3 "1 / 1 / 138 / 5" "54 / 50 / 1360 / 768" "607115" "https://alphafold.ebi.ac.uk/entry/Q96P20" "Q96P20" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.2" "Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "PMNs, chondrocytes" 54 50 1360 768 1 1 138 5 6.56792880365177e-06 6.56792880365177e-06 6.57479e-06 6.56792880365177e-06 6.57135940182588e-06 "7. AID" "2. Defects Affecting the Inflammasome" "PVMK deficiency" "PMVK" "AR" NA NA "4 / 4 / 38 / 24" NA "https://alphafold.ebi.ac.uk/entry/Q15126" "Q15126" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.1" "Phenococpies MVK deficiency, fevers, arthritis" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 4 4 38 24 NA NA NA NA 0 0 0 0 0 "7. AID" "2. Defects Affecting the Inflammasome" "RIPK1 deficiency" "RIPK1" "AD" 2 "1 / 1 / 81 / 4" "40 / 11 / 562 / 372" NA "https://alphafold.ebi.ac.uk/entry/Q13546" "Q13546" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.1" "Autoinflamamtion with fver, HSM, ulcers, arthralgia, GI inflammation. Responds to tocilizumab" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 40 11 562 372 1 1 81 4 8.10563892919902e-08 8.10758172385478e-08 8.10952451851054e-08 8.1066103265269e-08 8.10855312118266e-08 "7. AID" "3. Non-Inflammasome Related Conditions" "ADAM17 deficiency" "ADAM17" "AR" 2 "1 / 1 / 86 / 9" "34 / 10 / 458 / 602" "614328" "https://alphafold.ebi.ac.uk/entry/P78536" "P78536" "HP:0002721; HP:0004387" "Immunodeficiency; Enterocolitis" 710.8 "M04.8" "Early onset diarrhea and skin lesions" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Leukocytes and epithelial cells" 34 10 458 602 1 1 86 9 1.33288563722794e-06 1.33288563722794e-06 1.33288563722794e-06 1.33288563722794e-06 1.33288563722794e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "ALPI deficiency" "ALPI" "AR" 1 "0 / 1 / 17 / 1" "0 / 2 / 100 / 52" "171740" "https://alphafold.ebi.ac.uk/entry/P09923" "P09923" "HP:0002037; HP:0002721" "Inflammation of the large intestine; Immunodeficiency" 558.9 "K52.3" "Inflammatory bowel disease" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Intestinal epithelial cells" 0 2 100 52 0 1 17 1 3.3259866264242e-07 3.3259866264242e-07 3.3259866264242e-07 3.3259866264242e-07 3.3259866264242e-07 "7. AID" "3. Non-Inflammasome Related Conditions" "Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache (ROSAH)" "ALPK1" "AD" 1 "1 / 0 / 108 / 60" "4 / 2 / 919 / 630" "614979" "https://alphafold.ebi.ac.uk/entry/Q96QP1" "Q96QP1" "HP:0002721; HP:0004387" "Immunodeficiency; Enterocolitis" 710.8 "M04.8" "Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache, fever, arthritis, colitis, dental abnormalities" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 4 2 919 630 1 0 108 60 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "AP1S3 deficiency" "AP1S3" "AR" 0 "0 / 0 / 1 / 5" "0 / 0 / 12 / 44" "615781" "https://alphafold.ebi.ac.uk/entry/Q96PC3" "Q96PC3" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Pustular psoriasis" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Keratinocytes" 0 0 12 44 0 0 1 5 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "CAMPS (CARD14 mediated psoriasis)" "CARD14" "AD" 2 "1 / 1 / 261 / 31" "24 / 4 / 1423 / 1076" "602723" "https://alphafold.ebi.ac.uk/entry/Q9BXL6" "Q9BXL6" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Psoriasis" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "Mainly in keratinocytes" 24 4 1423 1076 1 1 261 31 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "COPA defect" "COPA" "AD" 2 "1 / 1 / 63 / 51" "8 / 4 / 749 / 916" "6011924" "https://alphafold.ebi.ac.uk/entry/P53621" "P53621" "HP:0001369; HP:0002721; HP:0006530" "Arthritis; Immunodeficiency; Abnormal pulmonary interstitial morphology" 710.8 "M04.8" "Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "PMN and tissue specific cells" 8 4 749 916 1 1 63 51 6.56844649671906e-06 6.57270324835953e-06 6.57696e-06 6.5705748725393e-06 6.57483162417977e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "Tim-3 deficiency" "HAVCR2" "AR" 0 "0 / 0 / 5 / 5" "0 / 0 / 58 / 30" "606652" "https://alphafold.ebi.ac.uk/entry/Q8TDQ0" "Q8TDQ0" "HP:0002721; HP:0012490" "Immunodeficiency; Panniculitis" 202.83 "C86.3" "T-cell lymphoma, subcutaneous panniculitis-like, HLH" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Leukocytes" 0 0 58 30 0 0 5 5 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "HCK disease" "HCK" "AD" 2 "1 / 1 / 12 / 1" "2 / 2 / 88 / 16" NA "https://alphafold.ebi.ac.uk/entry/P08631" "P08631" "HP:0002721; HP:0004387" "Immunodeficiency; Enterocolitis" 710.8 "M04.8" "Cutaneous vasculitis and chronic pulmonary inflammation/fibrosis. Inflammatory leukocyte infiltration of the lungs and skin, anemia, hepatosplenomegaly, death due to respiratory failure. Clinical improvement with ruxolitinib" NA NA NA NA NA "7. Autoinflammatory Disorders" "GOF" NA NA NA NA NA 2 2 88 16 1 1 12 1 6.56965476464212e-06 6.56965476464212e-06 6.56965476464212e-06 6.56965476464212e-06 6.56965476464212e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "NEMO Exon 5 deletion" "IKBKG" "XL" 3 "1 / 1 / 5 / 2" "101 / 36 / 102 / 38" NA "https://alphafold.ebi.ac.uk/entry/Q9Y6K9" "Q9Y6K9" "HP:0002721; HP:0004387" "Immunodeficiency; Enterocolitis" 710.8 "M04.8" "NFKB and interferon signatures, fever, rash, CNS inflammation" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 101 36 102 38 1 1 5 2 4.47024882221904e-08 4.47024882221904e-08 4.47024882221904e-08 4.47024882221904e-08 4.47024882221904e-08 "7. AID" "3. Non-Inflammasome Related Conditions" "CRMO3 IL1R1 disorder" "IL1R1" "AD" 0 "0 / 0 / 8 / 1" "2 / 0 / 42 / 14" NA "https://alphafold.ebi.ac.uk/entry/P14778" "P14778" "HP:0002721; HP:0004387" "Immunodeficiency; Enterocolitis" 710.8 "M04.8" "Arthritis, bone lesions, poor growth" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "Activated myeloid cells" 2 0 42 14 0 0 8 1 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "DIRA (Deficiency of the Interleukin 1 Receptor Antagonist)" "IL1RN" "AR" 2 "1 / 1 / 35 / 1" "17 / 8 / 217 / 228" "612852" "https://alphafold.ebi.ac.uk/entry/P18510" "P18510" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis." "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "PMNs, Monocytes" 17 8 217 228 1 1 35 1 3.40460486055118e-08 3.4051529867932e-08 3.40570111303522e-08 3.40487892367219e-08 3.40542704991421e-08 "7. AID" "3. Non-Inflammasome Related Conditions" "DITRA (Deficiency of IL-36 receptor antagonist)" "IL36RN" "AR" 2 "1 / 1 / 34 / 1" "13 / 9 / 228 / 146" "614204" "https://alphafold.ebi.ac.uk/entry/Q9UBH0" "Q9UBH0" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Pustular psoriasis" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Keratinocytes, leukocytes" 13 9 228 146 1 1 34 1 1.05162329086083e-07 2.10196086380916e-07 3.1522984367575e-07 1.576792077335e-07 2.62712965028333e-07 "7. AID" "3. Non-Inflammasome Related Conditions" "Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)" "LPIN2" "AR" 3 "1 / 1 / 124 / 6" "45 / 28 / 933 / 865" "609628" "https://alphafold.ebi.ac.uk/entry/Q92539" "Q92539" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Neutrophils, bone marrow cells" 45 28 933 865 1 1 124 6 4.34743729755038e-07 8.70194447671628e-07 1.74098247788005e-06 6.52469088713333e-07 1.30558846277584e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "LYN GOF disease" "LYN" "AD" 1 "1 / 0 / 18 / 0" "8 / 0 / 208 / 294" "620376" "https://alphafold.ebi.ac.uk/entry/P07948" "P07948" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Rash, fever, HSM, liver fibrosis, IBD" NA NA NA NA NA "7. Autoinflammatory Disorders" "GOF" NA NA NA NA "Endothelial cells" 8 0 208 294 1 0 18 0 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 6.5682739232957e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "HEM1 (NCKAPIL) deficiency" "NCKAPIL" "AR" NA NA NA NA "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002037; HP:0002721" "Inflammation of the large intestine; Immunodeficiency" 558.9 "K52.3" "Infections, skin rashes, ulcers, SLE-like, fever, HLH-like, FTT. High Th1 cytokines" "normal" "mixed" "mixed" NA NA "7. Autoinflammatory Disorders" NA "Normal T cell counts but high TCM, decreased prolfieration" "Normal" "Normal to high" NA NA NA NA NA NA NA NA NA NA 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "Blau syndrome" "NOD2" "AD" 6 "1 / 1 / 259 / 46" "28 / 6 / 1481 / 730" "186580" "https://alphafold.ebi.ac.uk/entry/Q9HC29" "Q9HC29" "HP:0000554; HP:0002721" "Uveitis; Immunodeficiency" 710.8 "M04.8" "Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Monocytes" 28 6 1481 730 1 1 259 46 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "Otulin deficiency" "OTULIN" "AD" 4 "1 / 2 / 26 / 4" "15 / 4 / 175 / 256" "615712" "https://alphafold.ebi.ac.uk/entry/Q96BN8" "Q96BN8" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Inflammatory disease" NA NA NA NA NA "7. Autoinflammatory Disorders" "DN" NA NA NA NA NA 15 4 175 256 1 2 26 4 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 "7. AID" "3. Non-Inflammasome Related Conditions" "Otulipenia/ORAS" "OTULIN" "AR" 4 "1 / 2 / 26 / 4" "15 / 4 / 175 / 256" "615712" "https://alphafold.ebi.ac.uk/entry/Q96BN8" "Q96BN8" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.8" "Fever, diarrhea , dermatitis" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "Leukocytes" 15 4 175 256 1 2 26 4 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 "7. AID" "3. Non-Inflammasome Related Conditions" "Otulin haplosufficiency" "OTULIN" "AD" 4 "1 / 2 / 26 / 4" "15 / 4 / 175 / 256" "615712" "https://alphafold.ebi.ac.uk/entry/Q96BN8" "Q96BN8" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Inflammatory disease, Staphylococcus aureus infection" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 15 4 175 256 1 2 26 4 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 5.98450898232862e-07 "7. AID" "3. Non-Inflammasome Related Conditions" "PLAID (PLCg2 associated antibody deficiency and immune dysregulation) or familial cold autoinflammatory syndrome 3 or APLAID (c2120A>C)" "PLCG2" "AD" 2 "1 / 1 / 211 / 42" "10 / 10 / 1610 / 1664" "614468" "https://alphafold.ebi.ac.uk/entry/P16885" "P16885" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.8" "Cold urticaria hypogammaglobulinemia, autoinflammation" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" "GOF" "Normal" "Normal" "Normal" "Normal" "B cells, NK, Mast cells" 10 10 1610 1664 1 1 211 42 6.56741119218215e-06 1.64265555960911e-05 2.62857e-05 1.14969833941366e-05 2.13561277980455e-05 "7. AID" "3. Non-Inflammasome Related Conditions" "PRAID" "POMP" "AD" 0 "0 / 0 / 15 / 0" "8 / 2 / 121 / 112" NA "https://alphafold.ebi.ac.uk/entry/Q9Y244" "Q9Y244" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Interferon signature, panniculitis, autoimmunity, lipodystrophy" "low" "low" NA NA NA "7. Autoinflammatory Disorders" NA "Low CD8" "Low" NA NA NA 8 2 121 112 0 0 15 0 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "PRAAS- CANDLE" "PSMB10" "AR" 1 "1 / 0 / 3 / 0" "16 / 0 / 34 / 14" NA "https://alphafold.ebi.ac.uk/entry/P40306" "P40306" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Interferon signature, panniculitis, autoimmunity, lipodystrophy" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 16 0 34 14 1 0 3 0 8.19958054498911e-10 8.19958054498911e-10 8.19958054498911e-10 8.19958054498911e-10 8.19958054498911e-10 "7. AID" "3. Non-Inflammasome Related Conditions" "PRAAS- CANDLE" "PSMB4" "AR" 1 "1 / 0 / 31 / 2" "4 / 0 / 269 / 210" NA "https://alphafold.ebi.ac.uk/entry/P28070" "P28070" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Interferon signature, panniculitis, autoimmunity, lipodystrophy" NA NA NA NA "and" "7. Autoinflammatory Disorders" NA NA NA NA NA NA 4 0 269 210 1 0 31 2 2.07376630877729e-06 2.07376630877729e-06 2.07376630877729e-06 2.07376630877729e-06 2.07376630877729e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)" "PSMB8" "AD" 4 "3 / 0 / 40 / 4" "34 / 5 / 257 / 196" "256040" "https://alphafold.ebi.ac.uk/entry/P28062" "P28062" "HP:0001954; HP:0002721; HP:0012490" "Recurrent fever; Immunodeficiency; Panniculitis" 695.18 "L98.2" "Contractures, panniculitis, ICC, fevers" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 34 5 257 196 3 0 40 4 2.117590259118e-06 3.17716637887679e-06 1.69439662787574e-05 2.11797654113046e-06 7.41316216165356e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)" "PSMB8" "AR" 4 "3 / 0 / 40 / 4" "34 / 5 / 257 / 196" "256040" "https://alphafold.ebi.ac.uk/entry/P28062" "P28062" "HP:0001954; HP:0002721; HP:0012490" "Recurrent fever; Immunodeficiency; Panniculitis" 695.18 "L98.2" "Contractures, panniculitis, ICC, fevers" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 34 5 257 196 3 0 40 4 2.117590259118e-06 3.17716637887679e-06 1.69439662787574e-05 2.11797654113046e-06 7.41316216165356e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "PRAAS -like condition" "PSMB9" "AR" 2 "1 / 1 / 3 / 3" "2 / 0 / 40 / 23" NA "https://alphafold.ebi.ac.uk/entry/P28065" "P28065" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Severe autoinflammatory phenotype (neonatal-onset fever, a chilblain-like skin rash, myositis" NA NA "variable" "mild pancytopenia" NA "7. Autoinflammatory Disorders" NA "Mild pancytopenia" "Mild pancytopenia" "Variable" "Mild pancytopenia" NA 2 0 40 23 1 1 3 3 6.57008639663612e-06 0.000101861543198318 0.000197153 5.42158147974771e-05 0.000149507271599159 "7. AID" "3. Non-Inflammasome Related Conditions" "PRAAS -like condition" "PSMB9" "AD" 2 "1 / 1 / 3 / 3" "2 / 0 / 40 / 23" NA "https://alphafold.ebi.ac.uk/entry/P28065" "P28065" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Severe autoinflammatory phenotype (neonatal-onset fever, Immunodeficiency." NA NA "variable" "mild pancytopenia" "and" "7. Autoinflammatory Disorders" NA "Mild pancytopenia" "Mild pancytopenia" "Variable" "Mild pancytopenia" NA 2 0 40 23 1 1 3 3 6.57008639663612e-06 0.000101861543198318 0.000197153 5.42158147974771e-05 0.000149507271599159 "7. AID" "3. Non-Inflammasome Related Conditions" "PSMD12 disorder" "PSMD12" "AR" NA NA "30 / 12 / 136 / 22" NA "https://alphafold.ebi.ac.uk/entry/O00232" "O00232" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Interferon signature, autinfalmmation, neurodevlopmental disorder" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 30 12 136 22 NA NA NA NA 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)" "PSMG2" "AR" 0 "0 / 0 / 27 / 8" "2 / 0 / 254 / 166" "609702" "https://alphafold.ebi.ac.uk/entry/Q969U7" "Q969U7" "HP:0002721; HP:0012490" "Immunodeficiency; Panniculitis" 695.18 "L98.2" "Panniculitis, lipodystrophy, autoimmune hemolytic anemia" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" NA 2 0 254 166 0 0 27 8 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome, hyperzincemia and hypercalprotectinemia" "PSTPIP1" "AD" 2 "1 / 0 / 111 / 20" "10 / 0 / 744 / 732" "604416" "https://alphafold.ebi.ac.uk/entry/O43586" "O43586" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.8" "Destructive arthritis, inflammatory skin rash, myositis" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Hematopoietic tissues, upregulated in activated T-cells" 10 0 744 732 1 0 111 20 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 6.56732493153564e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "Cherubism" "SH3BP2" "AD" 3 "1 / 1 / 113 / 18" "14 / 4 / 835 / 788" "118400" "https://alphafold.ebi.ac.uk/entry/P78314" "P78314" "HP:0000277; HP:0002721" "Abnormal mandible morphology; Immunodeficiency" 710.8 "M04.8" "Bone degeneration in jaws" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "Stroma cells, bone cells" 14 4 835 788 1 1 113 18 6.56697991160845e-06 6.56697991160845e-06 6.56697991160845e-06 6.56697991160845e-06 6.56697991160845e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "SHARPIN deficiency" "SHARPIN" "AR" NA NA "4 / 0 / 74 / 24" NA "https://alphafold.ebi.ac.uk/entry/Q9H0F6" "Q9H0F6" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Arthritis, fever, colitis, amylopectinosis" "low" NA NA NA NA "7. Autoinflammatory Disorders" NA NA "Low" NA NA "Impaired germinal centers" 4 0 74 24 NA NA NA NA 0 0 0 0 0 "7. AID" "3. Non-Inflammasome Related Conditions" "Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome SLC29A3 mutation" "SLC29A3" "AR" 12 "3 / 6 / 103 / 12" "59 / 20 / 509 / 428" "602782" "https://alphafold.ebi.ac.uk/entry/Q9BZD2" "Q9BZD2" "HP:0000998; HP:0002721" "Hypertrichosis; Immunodeficiency" 710.8 "M04.8" "Hyperpigmentation, hypertrichosis, histiocytosis, lymphadenopathy , clinodactyly, short stature, red cell aplasia" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "Leukocytes, bone cells" 59 20 509 428 3 6 103 12 3.74105603345122e-05 0.000112264516955422 0.00044900328136176 6.55069648315337e-05 0.000196487307305828 "7. AID" "3. Non-Inflammasome Related Conditions" "SYK disease" "SYK" "AD" 2 "1 / 1 / 5 / 2" "2 / 4 / 48 / 48" NA "https://alphafold.ebi.ac.uk/entry/P43405" "P43405" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Immune deficiency/recurrent infections, multi-organ inflammatory disease (colitis, arthritis, dermatitis), inflammation in multiple tissues (gut, skin, CNS, lung, liver). Diffuse large B cell lymphoma. High WBC counts, CRP" NA NA "low" NA NA "7. Autoinflammatory Disorders" "GOF" NA NA "Low IgG, IgM" NA NA 2 4 48 48 1 1 5 2 6.56879167077216e-06 6.56881083538608e-06 6.56883e-06 6.56880125307912e-06 6.56882041769304e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "TBK1 deficiency" "TBK1" "AR" 5 "1 / 1 / 51 / 11" "106 / 38 / 498 / 410" NA "https://alphafold.ebi.ac.uk/entry/Q9UHD2" "Q9UHD2" "HP:0002721; HP:0003765" "Immunodeficiency; Psoriasiform dermatitis" 710.8 "M04.8" "Autoinflammation, delayed development" NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA NA 106 38 498 410 1 1 51 11 6.56870537385787e-06 6.56870537385787e-06 6.57748e-06 6.56870537385787e-06 6.57309268692893e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "A20 deficiency" "TNFAIP3" "AD" 2 "1 / 1 / 113 / 32" "115 / 25 / 662 / 432" "616744" "https://alphafold.ebi.ac.uk/entry/P21580" "P21580" "HP:0002721; HP:0100533" "Immunodeficiency; Inflammatory abnormality of the eye" 710.8 "M04.8" "Arthralgia, mucosal ulcers, ocular inflammation " NA NA NA NA NA "7. Autoinflammatory Disorders" NA NA NA NA NA "Lymphocytes" 115 25 662 432 1 1 113 32 6.56741119218215e-06 6.56741119218215e-06 6.56741119218215e-06 6.56741119218215e-06 6.56741119218215e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "TNF receptor-associated periodic syndrome (TRAPS)" "TNFRSF1A" "AD" 3 "1 / 1 / 51 / 16" "30 / 28 / 615 / 484" "142680" "https://alphafold.ebi.ac.uk/entry/P19438" "P19438" "HP:0001954; HP:0002721" "Recurrent fever; Immunodeficiency" 710.8 "M04.8" "Recurrent fever, serositis, rash, and ocular or joint inflammation" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "PMNs, monocytes" 30 28 615 484 1 1 51 16 6.56801508016262e-06 6.56801508016262e-06 6.6065e-06 6.56801508016262e-06 6.58725754008131e-06 "7. AID" "3. Non-Inflammasome Related Conditions" "TRIM22" "TRIM22" "AR" 0 "0 / 0 / 3 / 0" "0 / 0 / 64 / 34" "606559" "https://alphafold.ebi.ac.uk/entry/Q8IYM9" "Q8IYM9" "HP:0002037; HP:0002721" "Inflammation of the large intestine; Immunodeficiency" 558.9 "K52.3" "Granulomatous colitis" "normal" "normal" "normal" "normal" NA "7. Autoinflammatory Disorders" NA "Normal" "Normal" "Normal" "Normal" "Macrophages, intestinal epithelial cells" 0 0 64 34 0 0 3 0 0 0 0 0 0 "8. CD" NA "C1q deficiency due to defects in C1QA" "C1QA" "AR" 2 "1 / 1 / 29 / 3" "16 / 6 / 140 / 118" "120550" "https://alphafold.ebi.ac.uk/entry/P02745" "P02745" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 16 6 140 118 1 1 29 3 7.17857282556833e-08 7.17857282556833e-08 7.17857282556833e-08 7.17857282556833e-08 7.17857282556833e-08 "8. CD" NA "C1q deficiency due to defects in C1QB" "C1QB" "AR" 2 "2 / 0 / 21 / 3" "4 / 8 / 146 / 114" "120570" "https://alphafold.ebi.ac.uk/entry/P02746" "P02746" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 4 8 146 114 2 0 21 3 8.15766382582335e-08 1.63187391289088e-07 2.44798144319942e-07 1.22382014773661e-07 2.03992767804515e-07 "8. CD" NA "C1q deficiency due to defects in C1QC" "C1QC" "AR" 3 "3 / 0 / 32 / 3" "4 / 0 / 132 / 162" "120575" "https://alphafold.ebi.ac.uk/entry/P02747" "P02747" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 4 0 132 162 3 0 32 3 4.26516901179963e-08 2.1229672232853e-07 2.9659941242613e-07 1.27474206223263e-07 2.5444806737733e-07 "8. CD" NA "C1r Periodontal Ehlers Danlos" "C1R" "AD" 2 "1 / 1 / 15 / 9" "24 / 5 / 57 / 83" "613785" "https://alphafold.ebi.ac.uk/entry/P00736" "P00736" "HP:0000704; HP:0002721" "Periodontitis; Immunodeficiency" 279.8 "D84.1" "Normal CH50, Hyperpigmentation, skin fragility" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" "GOF" "Normal" "Normal" "Normal" "Normal" NA 24 5 57 83 1 1 15 9 1.86324758760331e-06 1.86324758760331e-06 1.86324758760331e-06 1.86324758760331e-06 1.86324758760331e-06 "8. CD" NA "C1r deficiency" "C1R" "AR" 2 "1 / 1 / 15 / 9" "24 / 5 / 57 / 83" "613785" "https://alphafold.ebi.ac.uk/entry/P00736" "P00736" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms, Ehlers Danlos phenotype" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 24 5 57 83 1 1 15 9 1.86324758760331e-06 1.86324758760331e-06 1.86324758760331e-06 1.86324758760331e-06 1.86324758760331e-06 "8. CD" NA "C1s Periodontal Ehlers Danlos" "C1S" "AD" 1 "1 / 0 / 85 / 9" "48 / 16 / 651 / 440" "613785" "https://alphafold.ebi.ac.uk/entry/P09871" "P09871" "HP:0000704; HP:0002721" "Periodontitis; Immunodeficiency" 279.8 "D84.1" "Normal CH50, Hyperpigmentation, skin fragility" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" "GOF" "Normal" "Normal" "Normal" "Normal" NA 48 16 651 440 1 0 85 9 1.84870967598742e-06 1.84870967598742e-06 1.84870967598742e-06 1.84870967598742e-06 1.84870967598742e-06 "8. CD" NA "C1s deficiency" "C1S" "AR" 1 "1 / 0 / 85 / 9" "48 / 16 / 651 / 440" "120580" "https://alphafold.ebi.ac.uk/entry/P09871" "P09871" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms, Ehlers Danlos phenotype" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 48 16 651 440 1 0 85 9 1.84870967598742e-06 1.84870967598742e-06 1.84870967598742e-06 1.84870967598742e-06 1.84870967598742e-06 "8. CD" NA "C2 deficiency" "C2" "AR" 5 "2 / 3 / 88 / 9" "27 / 20 / 410 / 296" "217000" "https://alphafold.ebi.ac.uk/entry/P06681" "P06681" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms, atherosclerosis" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 27 20 410 296 2 3 88 9 8.34418355682352e-07 8.34516185643573e-07 1.66995732330134e-06 8.34418355682352e-07 8.34636884944745e-07 "8. CD" NA "C3 deficiency (LOF)" "C3" "AR" 4 "1 / 1 / 175 / 5" "41 / 57 / 1532 / 1304" "120700" "https://alphafold.ebi.ac.uk/entry/P01024" "P01024" "HP:0000793; HP:0002718; HP:0002721" "Membranoproliferative glomerulonephritis; Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Infections , glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations." "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 41 57 1532 1304 1 1 175 5 4.12100739488005e-06 4.12100739488005e-06 4.12396060492945e-06 4.12100739488005e-06 4.12248399990475e-06 "8. CD" NA "C3 GOF" "C3" "AD" 4 "1 / 1 / 175 / 5" "41 / 57 / 1532 / 1304" "120700" "https://alphafold.ebi.ac.uk/entry/P01024" "P01024" "HP:0002718; HP:0002721; HP:0005575" "Recurrent bacterial infections; Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Atypical hemolytic-uremic syndrome , dense deposit disease" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" "GOF" "Normal" "Normal" "Normal" "Normal" NA 41 57 1532 1304 1 1 175 5 4.12100739488005e-06 4.12100739488005e-06 4.12396060492945e-06 4.12100739488005e-06 4.12248399990475e-06 "8. CD" NA "Complete C4 deficiency" "C4A" "AR" 0 "0 / 0 / 5 / 2" "0 / 0 / 66 / 26" "120810" "https://alphafold.ebi.ac.uk/entry/P0C0L4" "P0C0L4" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 66 26 0 0 5 2 0 0 0 0 0 "8. CD" NA "Complete C4 deficiency" "C4B" "AR" 1 "0 / 1 / 4 / 2" "1 / 2 / 76 / 16" "120810" "https://alphafold.ebi.ac.uk/entry/c(\"P0C0L5\"" "c(\"P0C0L5\"" "HP:0002718; HP:0002721; HP:0002725" "Recurrent bacterial infections; Immunodeficiency; Systemic lupus erythematosus" 279.8 "D84.1" "SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 1 2 76 16 0 1 4 2 7.31171271201838e-06 7.31171271201838e-06 7.31171271201838e-06 7.31171271201838e-06 7.31171271201838e-06 "8. CD" NA "C5 deficiency" "C5" "AR" 6 "2 / 3 / 124 / 26" "53 / 27 / 675 / 810" "120900" "https://alphafold.ebi.ac.uk/entry/P01031" "P01031" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 53 27 675 810 2 3 124 26 8.5227529837218e-06 2.55723140064183e-05 0.000503041456819659 8.52795649090033e-06 0.000164151537968511 "8. CD" NA "C6 deficiency" "C6" "AR" 5 "1 / 3 / 119 / 24" "61 / 32 / 515 / 430" "217050" "https://alphafold.ebi.ac.uk/entry/P13671" "P13671" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 61 32 515 430 1 3 119 24 8.95336551504912e-06 2.68340843941575e-05 0.000170341309301111 2.68276870901489e-05 7.16122244016686e-05 "8. CD" NA "C7 deficiency" "C7" "AR" 8 "3 / 4 / 136 / 12" "68 / 36 / 525 / 524" "217070" "https://alphafold.ebi.ac.uk/entry/P10643" "P10643" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 68 36 525 524 3 4 136 12 1.13659816538003e-05 3.9786866888573e-05 0.000306718245160315 1.98948686408029e-05 5.9685142071587e-05 "8. CD" NA "C8a deficiency" "C8A" "AR" 9 "6 / 3 / 82 / 17" "39 / 12 / 347 / 388" "120950" "https://alphafold.ebi.ac.uk/entry/P07357" "P07357" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 39 12 347 388 6 3 82 17 9.18176081323958e-06 3.6725044010008e-05 0.00018368894114186 1.83622056484066e-05 5.51110106810549e-05 "8. CD" NA "C8b deficiency" "C8B" "AR" 9 "7 / 1 / 108 / 12" "65 / 16 / 383 / 314" "120960" "https://alphafold.ebi.ac.uk/entry/P07358" "P07358" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 65 16 383 314 7 1 108 12 1.45833471344488e-05 5.83709278468236e-05 0.0028504401839503 2.92009548766022e-05 0.000131403347947352 "8. CD" NA "C8g deficiency" "C8G" "AR" 0 "0 / 0 / 7 / 2" "0 / 0 / 46 / 28" "120930" "https://alphafold.ebi.ac.uk/entry/P07360" "P07360" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 46 28 0 0 7 2 0 0 0 0 0 "8. CD" NA "C9 deficiency" "C9" "AR" 11 "7 / 1 / 68 / 16" "56 / 9 / 337 / 302" "120940" "https://alphafold.ebi.ac.uk/entry/P02748" "P02748" "HP:0002718; HP:0002721; HP:0005381" "Recurrent bacterial infections; Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Mild susceptibility to disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 56 9 337 302 7 1 68 16 5.693198007229e-06 4.55419518688479e-05 0.000801793301948259 2.56148025930999e-05 0.000122367003172061 "8. CD" NA "Membrane Cofactor Protein (CD46) deficiency" "CD46" "AR" 6 "3 / 1 / 56 / 4" "40 / 34 / 439 / 274" "120920" "https://alphafold.ebi.ac.uk/entry/P15529" "P15529" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Atypical hemolytic-uremic syndrome, infections, preeclampsia" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 40 34 439 274 3 1 56 4 3.37878379947699e-07 6.759562417674e-07 2.02621558013469e-06 3.38184838122778e-07 1.68954560223112e-06 "8. CD" NA "Membrane Cofactor Protein (CD46) deficiency" "CD46" "AD" 6 "3 / 1 / 56 / 4" "40 / 34 / 439 / 274" "120920" "https://alphafold.ebi.ac.uk/entry/P15529" "P15529" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Atypical hemolytic-uremic syndrome, infections, preeclampsia" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 40 34 439 274 3 1 56 4 3.37878379947699e-07 6.759562417674e-07 2.02621558013469e-06 3.38184838122778e-07 1.68954560223112e-06 "8. CD" NA "CD55 deficiency (CHAPEL disease)" "CD55" "AR" 6 "3 / 3 / 40 / 11" "28 / 16 / 194 / 238" "125240" "https://alphafold.ebi.ac.uk/entry/P08174" "P08174" "HP:0001977; HP:0002243; HP:0002721" "Abnormal thrombosis; Protein-losing enteropathy; Immunodeficiency" 279.8 "D84.1" "Protein losing enteropathy, thrombosis" "normal" "normal" "low" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Low" "Normal" NA 28 16 194 238 3 3 40 11 2.50212279686387e-07 5.0037452416784e-07 1.00037005819865e-06 2.50431630380958e-07 7.50726685248607e-07 "8. CD" NA "Membrane Attack Complex Inhibitor (CD59) deficiency" "CD59" "AR" 0 "0 / 0 / 3 / 4" "6 / 12 / 68 / 124" "107271" "https://alphafold.ebi.ac.uk/entry/P13987" "P13987" "HP:0001878; HP:0001977; HP:0002721" "Hemolytic anemia; Abnormal thrombosis; Immunodeficiency" 279.8 "D84.1" "Hemolytic anemia, polyneuropathy, thrombosis" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 6 12 68 124 0 0 3 4 0 0 0 0 0 "8. CD" NA "Factor B LOF" "CFB" "AR" 0 "0 / 0 / 2 / 1" "4 / 4 / 589 / 406" "138470" "https://alphafold.ebi.ac.uk/entry/P00751" "P00751" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Infections with encapsulated organisms" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 4 4 589 406 0 0 2 1 0 0 0 0 0 "8. CD" NA "Factor B GOF" "CFB" "AD" 0 "0 / 0 / 2 / 1" "4 / 4 / 589 / 406" "138470" "https://alphafold.ebi.ac.uk/entry/P00751" "P00751" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Atypical Hemolytic-uremic syndrome" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" "GOF" "Normal" "Normal" "Normal" "Normal" NA 4 4 589 406 0 0 2 1 0 0 0 0 0 "8. CD" NA "Factor D deficiency" "CFD" "AR" 3 "2 / 1 / 55 / 6" "13 / 8 / 272 / 256" "134350" "https://alphafold.ebi.ac.uk/entry/P00746" "P00746" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 13 8 272 256 2 1 55 6 2.3864945321132e-07 7.16648459954688e-07 7.19232235727984e-07 4.77648956583004e-07 7.17940347841336e-07 "8. CD" NA "Factor H deficiency" "CFH" "AR" 8 "2 / 2 / 141 / 16" "72 / 78 / 1163 / 690" "134370" "https://alphafold.ebi.ac.uk/entry/P08603" "P08603" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 72 78 1163 690 2 2 141 16 1.88401087856467e-05 3.76730824762414e-05 5.65074883640707e-05 2.35489539340244e-05 3.77261620811298e-05 "8. CD" NA "Factor H deficiency" "CFH" "AD" 8 "2 / 2 / 141 / 16" "72 / 78 / 1163 / 690" "134370" "https://alphafold.ebi.ac.uk/entry/P08603" "P08603" "HP:0002721; HP:0005381" "Immunodeficiency; Recurrent meningococcal disease" 279.8 "D84.1" "Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 72 78 1163 690 2 2 141 16 1.88401087856467e-05 3.76730824762414e-05 5.65074883640707e-05 2.35489539340244e-05 3.77261620811298e-05 "8. CD" NA "Factor H –related protein deficiencies" "CFHR1" "AD" 1 "0 / 1 / 10 / 6" "0 / 2 / 90 / 112" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q03591" "Q03591" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 2 90 112 0 1 10 6 1.18558049465946e-05 1.18558049465946e-05 1.18558049465946e-05 1.18558049465946e-05 1.18558049465946e-05 "8. CD" NA "Factor H –related protein deficiencies" "CFHR1" "AR" 1 "0 / 1 / 10 / 6" "0 / 2 / 90 / 112" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q03591" "Q03591" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 2 90 112 0 1 10 6 1.18558049465946e-05 1.18558049465946e-05 1.18558049465946e-05 1.18558049465946e-05 1.18558049465946e-05 "8. CD" NA "Factor H –related protein deficiencies" "CFHR2" "AD" 0 "0 / 0 / 1 / 8" "0 / 0 / 52 / 58" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/P36980" "P36980" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 52 58 0 0 1 8 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR2" "AR" 0 "0 / 0 / 1 / 8" "0 / 0 / 52 / 58" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/P36980" "P36980" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 52 58 0 0 1 8 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR3" "AR" 0 "0 / 0 / 9 / 11" "0 / 0 / 93 / 82" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q02985" "Q02985" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 93 82 0 0 9 11 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR3" "AD" 0 "0 / 0 / 9 / 11" "0 / 0 / 93 / 82" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q02985" "Q02985" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 93 82 0 0 9 11 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR4" "AR" 0 "0 / 0 / 17 / 14" "0 / 0 / 152 / 74" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q92496" "Q92496" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 152 74 0 0 17 14 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR4" "AD" 0 "0 / 0 / 17 / 14" "0 / 0 / 152 / 74" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q92496" "Q92496" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 0 152 74 0 0 17 14 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR5" "AR" 0 "0 / 0 / 45 / 18" "3 / 0 / 490 / 146" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q9BXR6" "Q9BXR6" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 3 0 490 146 0 0 45 18 0 0 0 0 0 "8. CD" NA "Factor H –related protein deficiencies" "CFHR5" "AD" 0 "0 / 0 / 45 / 18" "3 / 0 / 490 / 146" "134371, 600889, 605336, 605337, 608593" "https://alphafold.ebi.ac.uk/entry/Q9BXR6" "Q9BXR6" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 3 0 490 146 0 0 45 18 0 0 0 0 0 "8. CD" NA "Factor I deficiency" "CFI" "AD" 2 "0 / 1 / 8 / 2" "64 / 57 / 666 / 432" "217030" "https://alphafold.ebi.ac.uk/entry/P05156" "P05156" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Atypical Hemolytic-uremic syndrome, preeclampsia" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 64 57 666 432 0 1 8 2 4.43338820602374e-08 4.43338820602374e-08 4.43338820602374e-08 4.43338820602374e-08 4.43338820602374e-08 "8. CD" NA "Factor I deficiency" "CFI" "AR" 2 "0 / 1 / 8 / 2" "64 / 57 / 666 / 432" "217030" "https://alphafold.ebi.ac.uk/entry/P05156" "P05156" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Infections (necapsulated bacteria), disseminated neisserial infections, CNS inflammatioon, vasculitis" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 64 57 666 432 0 1 8 2 4.43338820602374e-08 4.43338820602374e-08 4.43338820602374e-08 4.43338820602374e-08 4.43338820602374e-08 "8. CD" NA "Properdin deficiency" "CFP" "XL" 2 "1 / 1 / 26 / 9" "10 / 4 / 224 / 182" "300383" "https://alphafold.ebi.ac.uk/entry/P27918" "P27918" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Neisserial infections" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 10 4 224 182 1 1 26 9 3.04006956166122e-07 3.10450659910247e-07 3.16894363654371e-07 3.07228808038184e-07 3.13672511782309e-07 "8. CD" NA "Ficolin 3 deficiency" "FCN3" "AR" 0 "0 / 0 / 13 / 1" "0 / 4 / 78 / 14" "604973" "https://alphafold.ebi.ac.uk/entry/O75636" "O75636" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Respiratory infections, abscesses" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 4 78 14 0 0 13 1 0 0 0 0 0 "8. CD" NA "MASP2 deficiency" "MASP2" "AR" 2 "0 / 2 / 38 / 15" "0 / 6 / 234 / 76" "605102" "https://alphafold.ebi.ac.uk/entry/O00187" "O00187" "HP:0002718; HP:0002721" "Recurrent bacterial infections; Immunodeficiency" 279.8 "D84.1" "Pyogenic infections, inflammatory lung disease, autoimmunity" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 0 6 234 76 0 2 38 15 3.30599960720622e-05 4.95877617391333e-05 6.61155274062044e-05 4.13238789055977e-05 5.78516445726689e-05 "8. CD" NA "C1 inhibitor deficiency" "SERPING1" "AD" 3 "1 / 1 / 32 / 24" "530 / 172 / 441 / 402" "606860" "https://alphafold.ebi.ac.uk/entry/P05155" "P05155" "HP:0002721; HP:0100665" "Immunodeficiency; Angioedema" 279.8 "D84.1" "Hereditary angioedema" "normal" "normal" "normal" "normal" "rarely" "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 530 172 441 402 1 1 32 24 3.45774065672084e-06 3.45921609212848e-06 6.91725101258379e-06 3.45847837442466e-06 5.18823355235614e-06 "8. CD" NA "Thrombomodulin deficiency" "THBD" "AD" 3 "1 / 1 / 82 / 9" "4 / 16 / 821 / 290" "188040" "https://alphafold.ebi.ac.uk/entry/P07204" "P07204" "HP:0002721; HP:0005575" "Immunodeficiency; Hemolytic-uremic syndrome" 279.8 "D84.1" "Atypical hemolytic-uremic syndrome" "normal" "normal" "normal" "normal" NA "8. Complement Deficiencies" NA "Normal" "Normal" "Normal" "Normal" NA 4 16 821 290 1 1 82 9 6.56706616319159e-06 9.8521330815958e-06 1.31372e-05 8.20959962239369e-06 1.14946665407979e-05 "9. BMF" "1. Bone marrow failure" "DKC DCLRE1B" "DCLRE1B" "AR" 1 "1 / 0 / 43 / 4" "10 / 0 / 170 / 104" NA "https://alphafold.ebi.ac.uk/entry/Q9H816" "Q9H816" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Early-onset hypocellular bone marrow failure, developmental anomalies, microcephaly, and/or intrauterine growth retardation" "low" "low" NA "mixed" NA "9. Bone marrow failure" NA "Low naïve CD4" "Low" NA "Normal to low" "B and NK lymphopenia" 10 0 170 104 1 0 43 4 1.42433366275067e-05 1.42433366275067e-05 1.42433366275067e-05 1.42433366275067e-05 1.42433366275067e-05 "9. BMF" "1. Bone marrow failure" "DUT deficiency" "DUT" "AR" 1 "1 / 0 / 1 / 1" "2 / 0 / 14 / 6" NA "https://alphafold.ebi.ac.uk/entry/P33316" "P33316" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, diabetes" NA NA NA NA NA "9. Bone marrow failure" NA NA NA NA NA NA 2 0 14 6 1 0 1 1 4.14367384927e-09 4.14367384927e-09 4.14367384927e-09 4.14367384927e-09 4.14367384927e-09 "9. BMF" NA "DKCA6" "ACD" "AD" 0 "0 / 0 / 181 / 8" "6 / 4 / 1554 / 1106" "616553" "https://alphafold.ebi.ac.uk/entry/Q96AP0" "Q96AP0" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 6 4 1554 1106 0 0 181 8 0 0 0 0 0 "9. BMF" NA "DKCA6" "ACD" "AR" 0 "0 / 0 / 181 / 8" "6 / 4 / 1554 / 1106" "616553" "https://alphafold.ebi.ac.uk/entry/Q96AP0" "Q96AP0" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 6 4 1554 1106 0 0 181 8 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type S" "BRCA1" "AR" 38 "34 / 1 / 434 / 146" "7530 / 495 / 14623 / 6846" "617883" "https://alphafold.ebi.ac.uk/entry/P38398" "P38398" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 7530 495 14623 6846 34 1 434 146 2.11669408445691e-05 2.1179200013915e-05 0.000105832552260518 2.11704285057592e-05 4.23388375521883e-05 "9. BMF" NA "Fanconi Anemia Type D1" "BRCA2" "AR" 51 "44 / 1 / 1010 / 143" "9484 / 666 / 19120 / 9441" "605724" "https://alphafold.ebi.ac.uk/entry/P51587" "P51587" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 9484 666 19120 9441 44 1 1010 143 2.00863408116454e-05 2.01040467466183e-05 0.000160829892495838 2.00958512534094e-05 2.01204530230914e-05 "9. BMF" NA "Fanconi Anemia Type J" "BRIP1" "AR" NA NA "1129 / 398 / 6684 / 3538" "609054" "https://alphafold.ebi.ac.uk/entry/Q9BX63" "Q9BX63" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 1129 398 6684 3538 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Coats plus syndrome due to CTC1 deficiency" "CTC1" "AR" 18 "12 / 5 / 258 / 20" "160 / 58 / 1736 / 1122" "613129" "https://alphafold.ebi.ac.uk/entry/Q2NKJ3" "Q2NKJ3" "HP:0001511; HP:0002721; HP:0005528" "Intrauterine growth retardation; Immunodeficiency; Bone marrow hypocellularity" 279.2 "D82.8" "Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres" "normal" "normal" NA NA NA "9. Bone marrow failure" NA "Normal" "Normal" NA NA NA 160 58 1736 1122 12 5 258 20 2.36795229983088e-05 4.74558455029674e-05 0.000853104150527298 2.96128986535918e-05 9.47754600517524e-05 "9. BMF" NA "DKCX1" "DKC1" "XL" 3 "1 / 1 / 26 / 5" "33 / 22 / 359 / 580" "305000" "https://alphafold.ebi.ac.uk/entry/O60832" "O60832" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 33 22 359 580 1 1 26 5 1.01081363715487e-07 1.01081363715487e-07 1.01081363715487e-07 1.01081363715487e-07 1.01081363715487e-07 "9. BMF" NA "Fanconi Anemia Type Q" "ERCC4" "AR" 8 "4 / 3 / 192 / 8" "61 / 45 / 1108 / 608" "615272" "https://alphafold.ebi.ac.uk/entry/Q92889" "Q92889" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 61 45 1108 608 4 3 192 8 2.03246254531206e-06 2.03350524800173e-06 4.06826288516925e-05 2.0327549352377e-06 7.11864638498095e-06 "9. BMF" NA "Fanconi Anemia Type A" "FANCA" "AR" NA NA "1215 / 600 / 4205 / 4618" "227650" "https://alphafold.ebi.ac.uk/entry/O15360" "O15360" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 1215 600 4205 4618 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type B" "FANCB" "XL" NA NA "46 / 10 / 724 / 616" "300514" "https://alphafold.ebi.ac.uk/entry/Q8NB91" "Q8NB91" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 46 10 724 616 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type C" "FANCC" "AR" NA NA "220 / 211 / 2079 / 1468" "227645" "https://alphafold.ebi.ac.uk/entry/Q00597" "Q00597" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 220 211 2079 1468 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type D2" "FANCD2" "AR" NA NA "239 / 253 / 1605 / 1842" "227646" "https://alphafold.ebi.ac.uk/entry/Q9BXW9" "Q9BXW9" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 239 253 1605 1842 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type E" "FANCE" "AR" NA NA "51 / 68 / 765 / 636" "600901" "https://alphafold.ebi.ac.uk/entry/Q9HB96" "Q9HB96" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 51 68 765 636 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type F" "FANCF" "AR" 2 "1 / 1 / 84 / 4" "50 / 46 / 666 / 254" "603467" "https://alphafold.ebi.ac.uk/entry/Q9NPI8" "Q9NPI8" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 50 46 666 254 1 1 84 4 4.35225454252653e-07 8.70625856753838e-07 1.30602625925502e-06 6.52925655503245e-07 1.08832605800443e-06 "9. BMF" NA "Fanconi Anemia Type I" "FANCI" "AR" 20 "8 / 7 / 258 / 24" "199 / 255 / 1962 / 2048" "609053" "https://alphafold.ebi.ac.uk/entry/Q9NVI1" "Q9NVI1" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 199 255 1962 2048 8 7 258 24 1.04543608399093e-05 1.5705814605317e-05 0.000167314598982521 1.04586814832174e-05 3.40232905223255e-05 "9. BMF" NA "Fanconi Anemia Type L" "FANCL" "AR" NA NA "97 / 106 / 645 / 700" "614083" "https://alphafold.ebi.ac.uk/entry/Q9NW38" "Q9NW38" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 97 106 645 700 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type M" "FANCM" "AR" 15 "9 / 2 / 476 / 19" "236 / 78 / 3532 / 1494" "618096" "https://alphafold.ebi.ac.uk/entry/Q8IYD8" "Q8IYD8" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 236 78 3532 1494 9 2 476 19 9.19963294427423e-06 1.84561769478313e-05 0.000128847937581293 9.21155884894464e-06 3.68176921626881e-05 "9. BMF" NA "Fanconi Anemia Type V" "MAD2L2" "AR" NA NA "2 / 0 / 113 / 198" "617243" "https://alphafold.ebi.ac.uk/entry/Q9UI95" "Q9UI95" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 2 0 113 198 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "EVI1, MECOM deficiency" "MECOM" "AD" 2 "1 / 1 / 51 / 10" "24 / 23 / 739 / 454" NA "https://alphafold.ebi.ac.uk/entry/Q03112" "Q03112" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Somatic features: radioulnar synostosis, clinodactyly, cardiac and renal malformations, late onset hearing loss. Genotype-phenotype correlation with B cell deficiency associated with C-terminal mutations. Phenocopies HOXA11 deficient patients" "variable" NA "variable" "pancytopenia" NA "9. Bone marrow failure" NA "Pancytopenia with thrombocytopenia most common" "B cell deficiency variable" "Variable" "Pancytopenia" NA 24 23 739 454 1 1 51 10 6.57505e-06 6.575745e-06 6.57644e-06 6.5753975e-06 6.5760925e-06 "9. BMF" NA "DKCB2" "NOLA2" "AR" NA NA NA "613987" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" NA NA NA NA NA NA NA NA 0 0 0 0 0 "9. BMF" NA "DKCB1" "NOLA3" "AR" NA NA NA "224230" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" NA NA NA NA NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type N" "PALB2" "AR" NA NA "2012 / 331 / 6581 / 2882" "610832" "https://alphafold.ebi.ac.uk/entry/Q86YC2" "Q86YC2" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 2012 331 6581 2882 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "DKCB6" "PARN" "AR" 3 "1 / 1 / 94 / 4" "93 / 58 / 823 / 746" "616353" "https://alphafold.ebi.ac.uk/entry/O95453" "O95453" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "developmental delay, microcephaly, and cerebellar hypoplasia" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 93 58 823 746 1 1 94 4 1.99194756678363e-07 1.99194756678363e-07 3.99071653481394e-07 1.99194756678363e-07 2.99133205079879e-07 "9. BMF" NA "Fanconi Anemia Type R" "RAD51" "AR" NA NA "8 / 10 / 481 / 434" "617244" "https://alphafold.ebi.ac.uk/entry/Q06609" "Q06609" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 8 10 481 434 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type O" "RAD51C" "AR" NA NA "394 / 160 / 2341 / 1190" "613390" "https://alphafold.ebi.ac.uk/entry/O43502" "O43502" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 394 160 2341 1190 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconia Anemia Type W" "RFWD3" "AR" NA NA "4 / 0 / 720 / 454" "617784" "https://alphafold.ebi.ac.uk/entry/Q6PCD5" "Q6PCD5" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 4 0 720 454 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "DKCA4" "RTEL1" "AD" 15 "3 / 6 / 389 / 27" "213 / 232 / 2874 / 3824" "615190" "https://alphafold.ebi.ac.uk/entry/Q9NZ71" "Q9NZ71" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 213 232 2874 3824 3 6 389 27 1.32341111960884e-05 2.6490342079088e-05 0.000172283302112285 1.32435115084387e-05 7.94412250985176e-05 "9. BMF" NA "DKCB5" "RTEL1" "AR" 15 "3 / 6 / 389 / 27" "213 / 232 / 2874 / 3824" "615190" "https://alphafold.ebi.ac.uk/entry/Q9NZ71" "Q9NZ71" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "nail dystrophy, leukoplakia, bone marrow failure, severe B-cell immunodeficiency, intrauterine growth retardation, growth retardation, microcephaly, cerebellar hypoplasia, and esophageal dysfunction" "low" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "low" NA NA "Hematopoietic stem cell" 213 232 2874 3824 3 6 389 27 1.32341111960884e-05 2.6490342079088e-05 0.000172283302112285 1.32435115084387e-05 7.94412250985176e-05 "9. BMF" NA "SAMD9 (GOF)" "SAMD9" "AD" 3 "1 / 1 / 197 / 29" "18 / 42 / 1895 / 958" "617053" "https://alphafold.ebi.ac.uk/entry/Q5K651" "Q5K651" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D46.9" "IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen" NA NA NA NA NA "9. Bone marrow failure" "GOF" "Not reported" "Not reported" NA NA NA 18 42 1895 958 1 1 197 29 6.57748e-06 6.5825e-06 3.28515e-05 6.57999e-06 1.9717e-05 "9. BMF" NA "Ataxia Pancytopenia Syndrome" "SAMD9L" "AD" 3 "1 / 1 / 177 / 25" "8 / 24 / 1913 / 618" "611170" "https://alphafold.ebi.ac.uk/entry/Q8IVG5" "Q8IVG5" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "MDS, neurological features" "low" "normal" NA NA NA "9. Bone marrow failure" "GOF" "nl" "low" NA NA "Hematopoietic stem cell, myeloid cells" 8 24 1913 618 1 1 177 25 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 6.56775625742977e-06 "9. BMF" NA "Fanconi Anemia Type P" "SLX4" "AR" NA NA "169 / 70 / 3001 / 1610" "613951" "https://alphafold.ebi.ac.uk/entry/Q8IY92" "Q8IY92" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 169 70 3001 1610 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "BMFS1 (SRP72-deficiency)" "SRP72" "AD" 0 "0 / 0 / 70 / 8" "2 / 0 / 891 / 606" "602122" "https://alphafold.ebi.ac.uk/entry/O76094" "O76094" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure and congenital nerve deafness" NA NA NA NA NA "9. Bone marrow failure" NA NA NA NA NA "Hematopoietic stem cell" 2 0 891 606 0 0 70 8 0 0 0 0 0 "9. BMF" NA "Coats plus syndrome due to STN1 deficiency" "STN1" "AR" 1 "1 / 0 / 48 / 7" "2 / 0 / 291 / 250" "613128" "https://alphafold.ebi.ac.uk/entry/Q9H668" "Q9H668" "HP:0001511; HP:0002721; HP:0005528" "Intrauterine growth retardation; Immunodeficiency; Bone marrow hypocellularity" 279.2 "D82.8" "Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres" "variable" "variable" NA NA NA "9. Bone marrow failure" NA "Variable" "Variable" NA NA NA 2 0 291 250 1 0 48 7 2.23750715069284e-05 2.23750715069284e-05 2.23750715069284e-05 2.23750715069284e-05 2.23750715069284e-05 "9. BMF" NA "DKCA1" "TERC" "AD" NA NA "42 / 25 / 683 / 12" "127550" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 42 25 683 12 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "DKCB4" "TERT" "AR" 7 "1 / 4 / 221 / 25" "192 / 99 / 3379 / 3128" "613989" "https://alphafold.ebi.ac.uk/entry/O14746" "O14746" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 192 99 3379 3128 1 4 221 25 6.17623185572217e-07 6.17843184757518e-07 8.02311251152704e-06 6.17802287473869e-07 2.77915496747761e-06 "9. BMF" NA "DKCA2" "TERT" "AD" 7 "1 / 4 / 221 / 25" "192 / 99 / 3379 / 3128" "187270" "https://alphafold.ebi.ac.uk/entry/O14746" "O14746" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 192 99 3379 3128 1 4 221 25 6.17623185572217e-07 6.17843184757518e-07 8.02311251152704e-06 6.17802287473869e-07 2.77915496747761e-06 "9. BMF" NA "DKCA3" "TINF2" "AD" 2 "1 / 1 / 73 / 8" "26 / 16 / 671 / 376" "604319" "https://alphafold.ebi.ac.uk/entry/Q9BSI4" "Q9BSI4" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 26 16 671 376 1 1 73 8 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 6.56689366229093e-06 "9. BMF" NA "BMFS5" "TP53" "AD" NA NA "1406 / 325 / 3028 / 1993" "618165" "https://alphafold.ebi.ac.uk/entry/P04637" "P04637" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Erythroid hypoplasia, B-cell deficiency" "low" NA NA NA NA "9. Bone marrow failure" NA "NA" "Low" NA NA "Hematopoietic stem cell" 1406 325 3028 1993 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type T" "UBE2T" "AR" NA NA "21 / 5 / 33 / 54" "616435" "https://alphafold.ebi.ac.uk/entry/Q9NPD8" "Q9NPD8" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 21 5 33 54 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "DKCB3" "WRAP53" "AR" 2 "1 / 1 / 107 / 6" "6 / 6 / 556 / 450" "613988" "https://alphafold.ebi.ac.uk/entry/Q9BUR4" "Q9BUR4" "HP:0002721; HP:0002745; HP:0005528" "Immunodeficiency; Oral leukoplakia; Bone marrow hypocellularity" 238.72 "D61.89" "Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 6 6 556 450 1 1 107 6 9.75368399502854e-06 9.75532117124662e-06 9.75695834746471e-06 9.75450258313758e-06 9.75613975935567e-06 "9. BMF" NA "Fanconi Anemia Type U" "XRCC2" "AR" NA NA "4 / 30 / 997 / 420" "617247" "https://alphafold.ebi.ac.uk/entry/O43543" "O43543" "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" 4 30 997 420 NA NA NA NA 0 0 0 0 0 "9. BMF" NA "Fanconi Anemia Type G" "XRCC9" "AR" NA NA NA "614082" "https://alphafold.ebi.ac.uk/entry/NA" NA "HP:0002721; HP:0005528" "Immunodeficiency; Bone marrow hypocellularity" 238.72 "D61.89" "Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage" "borderline" "mixed" NA NA NA "9. Bone marrow failure" NA "normal to low" "Normal to low" NA NA "Hematopoietic stem cell" NA NA NA NA NA NA NA NA 0 0 0 0 0