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Genetically driven immune disorders

686 records found

ID Condition's_name Synonyms Gene MOI[ℹ] MOA[ℹ] Pub.Year[ℹ] IUIS.classification[ℹ] Curated[ℹ] #Cases[ℹ] #Fams[ℹ] OMIM ORPHA MONDO LastUpdated
SCID-X1 X-linked severe combined immunodeficiency Severe combined immunodeficiency due to gamma chain deficiency IL2RG XLR 1993 1.1. T-B+ Severe Combined Immune Deficiency No 1 1 300400 276 2023-02-28
BLS1A Bare lymphocyte syndrome type 1A MHC class I deficiency 1 | MHC1D1 TAP1 AR 1999 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 604571 2023-02-28
BLS1B Bare lymphocyte syndrome type 1B MHC class I deficiency 2 | MHC1D2 TAP2 AR 1994 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620813 2023-02-28
SPENCDI Spondyloenchondrodysplasia with immune dysregulation Spondylometaphyseal dysplasia with combined immunodeficiency | Roifman-Melamed syndrome | SPENCD ACP5 AR Loss of Function 2011 7.1. Type 1 Interferonopathies No 0 0 607944 50816 2024-07-28
SCID15 Severe combined immunodeficiency due to adenosine deaminase deficiency DADA | Adenosine deaminase 1 deficiency | deficiency of adenosine deaminase ADA AR Loss of Function 1986 1.2. T-B- Severe Combined Immune Deficiency Ongoing 1 1 102700 277 7064 2023-02-28
NISBD1 Inflammatory skin and bowel disease, neonatal 1 neonatal inflammatory skin and bowel disease ADAM17 AR 2011 7.3. Non-Inflammasome Related Conditions No 0 0 614328 17411 2023-05-17
SCID16 Reticular dysgenesis AK2 defect AK2 AR 2009 1.2. T-B- Severe Combined Immune Deficiency No 0 0 267500 33355 2023-02-28
HPS2 Hermansky-Pudlak syndrome 2 AP3B1 AR 1999 4.2. FHL Syndromes with Hypopigmentation No 0 0 608233 2023-02-28
HPS10 Hermansky-Pudlak syndrome 10 AP3D1 AR 2016 4.2. FHL Syndromes with Hypopigmentation No 0 0 617050 2023-02-28
XLP2 Lymphoproliferative syndrome, X-linked, 2 XIAP XLR 2006 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 300635 2023-02-28
CVID18 Immunodeficiency, common variable, 18 Immunodeficiency 62 | IMD62 | ARHGEF1 deficiency ARHGEF1 AR Loss of Function 2019 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 618459 2023-02-28
IMD129 Immunodeficiency 129 Epidermodysplasia verruciformis, susceptibility to, 4 RHOH AR 2012 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 618307 2023-02-28
IMD71 ARPC1B deficiency Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia ARPC1B AR Loss of Function 2017 2.1. Immunodeficiency with Congenital Thrombocytopenia Yes 39 31 617718 60583 2023-10-22
IMD37 Immunodeficiency 37 BCL10 AR 2014 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 616098 2023-02-28
BLMS Bloom syndrome microcephaly, growth restriction and increased sister chromatid exchange BLM AR 1995 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 210900 20629 2023-12-14
C1QAD C1q deficiency type A C1Q deficiency C1QA AR 1996 8.1. Complement Deficiency syndromes No 0 0 613652 13343 2023-02-28
CVID17 Immunodeficiency, common variable, 17 Immunodeficiency 47 | IMD47 | ATP6AP1 deficiency ATP6AP1 XLR 2016 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 3 1 300972 2024-10-03
IMD43 Immunodeficiency 43 MHC class I deficiency-4 | MHC1D4 B2M AR 2006 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 241600 2023-02-28
C1QBD C1q deficiency type B C1Q deficiency C1QB AR 1988 8.1. Complement Deficiency syndromes No 0 0 613652 13343 2023-02-28
C1QCD C1q deficiency type C C1Q deficiency C1QC AR 1993 8.1. Complement Deficiency syndromes No 0 0 613652 13343 2023-02-28
EDSPD1 Ehlers-Danlos syndrome, periodontal type 1 C1R AD 2016 8.1. Complement Deficiency syndromes No 0 0 130080 2023-02-28
C2D Complement component 2 deficiency C2 AR 1991 8.1. Complement Deficiency syndromes No 0 0 217000 2023-02-28
C4BD C4b deficiency C4 deficiency C4B AR 1981 8.1. Complement Deficiency syndromes No 0 0 614379 2023-02-28
C6D Complement component 6 deficiency C6 AR 1995 8.1. Complement Deficiency syndromes No 0 0 612446 2023-02-28
CANDF8 Candidiasis, familial 8 TRAF3IP2 AR 2013 6.6. Predisposition to Mucocutaneous Candidiasis No 0 0 615527 2023-02-28
C7D Complement component 7 deficiency C7 AR 1996 8.1. Complement Deficiency syndromes No 0 0 610102 2023-02-28
ATXPC Ataxia-pancytopenia syndrome SAMD9L AD 2016 9.1. Bone Marrow Failure syndromes No 0 0 159550 2023-02-28
C8DI Complement component 8 deficiency, type I C8A AR 1998 8.1. Complement Deficiency syndromes No 0 0 613790 2023-02-28
C8DII Complement component 8 deficiency, type II C8B AR 1993 8.1. Complement Deficiency syndromes No 0 0 613789 2023-02-28
C9D Complement component 9 deficiency C9 AR 1997 8.1. Complement Deficiency syndromes No 0 0 613825 2023-02-28
TTP Thrombotic thrombocytopenic purpura, hereditary Schulman-Upshaw syndrome ADAMTS13 AR Loss of Function 2001 0.0. Confirmed absent in IUIS reports No 0 0 274150 2023-02-28
ALPS2A Autoimmune lymphoproliferative syndrome, type IIA CASP10 AD 1999 4.6. Autoimmune Lymphoproliferative Syndrome (ALPS) No 0 0 603909 2023-02-28
262 Caspase 8 defiency Caspase 8 lymphadenopathy syndrome CASP8 AR 2002 4.6. Autoimmune Lymphoproliferative Syndrome (ALPS) No 0 0 607271 2023-02-28
CVID3 Immunodeficiency, common variable, 3 CD19 deficiency CD19 AR 2006 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 613493 2023-02-28
SCID4 Immunodeficiency 19 CD3D deficiency CD3D AR 2003 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 615617 169160 2023-02-28
SCID5 Immunodeficiency 18 CD3E deficiency CD3E AR 1993 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 615615 169160 2023-02-28
IMD17 Immunodeficiency 17 CD3G AR 1992 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615607 2023-02-28
SCID6 Immunodeficiency due to defect in CD3-Zeta CD3Z deficiency | immunodeficiency 25 CD247 AR 2006 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 610163 169160 2023-02-28
284 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy CD59 AR 1992 8.1. Complement Deficiency syndromes No 0 0 612300 2023-02-28
AGM3 Agammaglobulinemia 3 CD79A deficiency | Ig-alfa deficiency CD79A AR 1999 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 613501 2023-02-28
AGM6 Agammaglobulinemia 6 CD79B deficiency CD79B AR 2007 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 612692 2023-02-28
CVID6 Immunodeficiency, common variable, 6 CD81 deficiency CD81 AR 2010 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 613496 2023-02-28
IMD116 Immunodeficiency 116 CD8 deficiency, familial CD8A AR Loss of Function 2001 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 608957 2024-01-12
TKS Takenouchi-Kosaki syndrome CDC42 AD 2015 7.1. Type 1 Interferonopathies No 0 0 616737 2023-02-28
CVID8 Immunodeficiency, common variable, 8 Immunodeficiency, common variable, 8, with autoimmunity | LRBA deficiency LRBA AR Loss of Function 2012 4.3. Regulatory T Cell Defects Ongoing 174 146 614700 2023-02-28
CF Cystic fibrosis CFTR AR 1989 5.2. Defects of Motility No 0 0 219700 586 2023-02-28
CHS Chediak-Higashi syndrome LYST AR 1996 4.2. FHL Syndromes with Hypopigmentation No 0 0 214500 2023-02-28
COH1 Cohen syndrome Pepper syndrome | CHS1 | COH VPS13B AR Loss of Function 2003 5.1. Congenital Neutropenias Ongoing 3 1 216550 193 2023-02-28
AILJK Autoimmune interstitial lung, joint, and kidney disease COPA AD 2015 7.3. Non-Inflammasome Related Conditions No 0 0 616414 2023-02-28
SCID7 Immunodeficiency 8 Coronin-1A deficiency CORO1A AR 2009 1.1. T-B+ Severe Combined Immune Deficiency Ongoing 9 5 615401 228003 2023-02-28
CVID7 Immunodeficiency, common variable, 7 CD21 deficiency CR2 AR 2012 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 614699 2023-02-28
SMDP4 Surfactant metabolism dysfunction, pulmonary, 4 CSF2RA XLR 2008 5.4. Other Non-Lymphoid Defects No 0 0 300770 2023-02-28
SMDP5 Surfactant metabolism dysfunction, pulmonary, 5 CSF2RB AR 2011 5.4. Other Non-Lymphoid Defects No 0 0 614370 2023-02-28
SCN7 Severe congenital neutropenia 7 CSF3R AR 2014 5.1. Congenital Neutropenias No 0 0 617014 2023-02-28
CHAI CTLA4 haploinsufficiency with autoimmune infiltration CTLA4 deficiency | CHAI disease | autoimmune lymphoproliferative syndrome type V | ALPS type 5 | ALPS type V | Autoimmune lymphoproliferative syndrome, type V CTLA4 AD Haploinsufficiency 2014 4.3. Regulatory T Cell Defects Ongoing 268 156 616100 14493 2023-08-25
IMD24 Immunodeficiency 24 CTPS1 AR 2014 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 615897 2023-02-28
WHIMS1 Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome WHIM syndrome CXCR4 AD 2003 6.2. Epidermodysplasia verruciformis (HPV) No 0 0 193670 23880 2023-05-17
CGD4 Granulomatous disease, chronic, 4 CYBA AR 1990 5.3. Defects of Respiratory Burst No 0 0 233690 2023-02-28
CFDD Complement factor D deficiency CFD AR 2001 8.1. Complement Deficiency syndromes No 0 0 613912 2023-02-28
DFNA1 Deafness 1, with or without thrombocytopenia DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | autosomal dominant nonsyndromic deafness 1 DIAPH1 AD Gain of Function 1997 0.0. Confirmed absent in IUIS reports Yes 88 13 124900 494444 19587 2023-05-17
ICF1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome DNMT3B AR 1999 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 242860 133 2023-05-17
IMD40 Immunodeficiency 40 DOCK2 AR 2015 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 1 1 616433 2023-02-28
590 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MECOM AD 2015 9.1. Bone Marrow Failure syndromes No 0 0 616738 2023-02-28
ISDNA Immunoskeletal dysplasia with neurodevelopmental abnormalities EXTL3 AR 2017 2.4. Immuno-osseous Dysplasias No 0 0 617425 2023-02-28
IMD90 Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations FADD AR 2010 4.6. Autoimmune Lymphoproliferative Syndrome (ALPS) No 0 0 613759 2023-02-28
DKCX Dyskeratosis congenita, X-linked DKC1 XLR 1998 9.1. Bone Marrow Failure syndromes No 0 0 305000 2023-02-28
SLES16 Susceptibility to Systemic lupus erythematosus 16 Systemic lupus erythematosus 16, susceptibility | SLEB16 DNASE1L3 AR 2011 7.1. Type 1 Interferonopathies No 0 0 614420 536 2023-02-28
VBU Vibratory urticaria ADGRE2 AD 2016 0.0. Confirmed absent in IUIS reports No 0 0 125630 2023-02-28
FANCA Fanconi anemia, complementation group A Fanconi anemia FANCA AR 1996 9.1. Bone Marrow Failure syndromes No 0 0 227650 19391 2023-05-17
FANCB Fanconi anemia,complementation group B FANCB XLR 2004 9.1. Bone Marrow Failure syndromes No 0 0 300514 2023-02-28
FANCC Fanconi anemia, complementation group C FANCC AR 1992 9.1. Bone Marrow Failure syndromes No 0 0 227645 2023-02-28
FANCD2 Fanconi anemia, complementation group D2 FANCD2 AR 2001 9.1. Bone Marrow Failure syndromes No 0 0 227646 2023-02-28
FANCE Fanconi anemia, complementation group E FANCE AR 2000 9.1. Bone Marrow Failure syndromes No 0 0 600901 2023-02-28
FANCF Fanconia anemia, complementation group F FANCF AR 2000 9.1. Bone Marrow Failure syndromes No 0 0 603467 2023-02-28
IMD20 Immunodeficiency 20 FCGR3A AR 1996 6.3. Predisposition to Severe Viral Infection No 0 0 615707 2023-02-28
FANCG Fanconi anemia, complementation group G FANCG AR 1998 9.1. Bone Marrow Failure syndromes No 0 0 614082 2023-02-28
RILDBC2 FARSA deficiency Rajab interstitial lung disease with brain calcifications 2 FARSA AR 2019 0.0. Confirmed absent in IUIS reports No 0 0 619013 2024-02-07
FCN3ID Immunodeficiency due to Ficolin 3 deficiency FCN3 AR 2009 8.1. Complement Deficiency syndromes No 0 0 613860 2023-02-28
IMD38 Immunodeficiency 38 Immunodeficiency 38, with basal ganglia calcification ISG15 AR 2012 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 616126 2023-02-28
FAVISM Glucose-6-phosphate dehydrogenase deficiency Class I glucose-6-phosphate dehydrogenase deficiency G6PD XLR 1967 5.3. Defects of Respiratory Burst No 0 0 300908 466026 2023-02-28
ICF4 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 HELLS AR 2015 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 616911 2023-02-28
IMD72 Immunodeficiency 72 with autoinflammation NCKAP1L deficiency NCKAP1L AR 2020 7.3. Non-Inflammasome Related Conditions No 0 0 618982 2023-02-28
HMOX1D Heme oxygenase 1 deficiency Isolated congenital asplenia HMOX1 AR 1999 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 614034 2023-02-28
CVID1 Immunodeficiency, common variable, 1 ICOS deficiency ICOS AR Loss of Function 2003 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 18 9 607594 11864 2023-02-28
VODI Hepatic venoocclusive disease with immunodeficiency SP110 AR 2006 2.9. Other defects No 0 0 235550 2023-02-28
IMD28 Immunodeficiency 28 IFNGR2 AR 1998 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 614889 2023-02-28
AGM1 Agammaglobulinemia 1 Heavy chain deficiency IGHM AR 1996 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 601495 15977 2023-05-17
IMD45 Immunodeficiency 45 IFNAR2 AR Loss of Function 2020 6.3. Predisposition to Severe Viral Infection No 0 0 616669 2023-07-13
AGM11 Agammaglobulinemia 11 Kappa light chain deficiency | Immunoglobulin kappa light chain deficiency IGKC AR 1985 3.4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells No 0 0 614102 2023-02-28
AGM2 Agammaglobulinemia 2 Lambda light chain deficiency IGLL1 AR 1998 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 613500 2023-02-28
IBD28 Inflammatory bowel disease 28, autosomal recessive IL10RA AR 2009 4.5. Immune Dysregulation with Colitis No 0 0 613148 2023-02-28
IBD25 Inflammatory bowel disease 25, early onset, autosomal recessive IL10RB AR 2009 4.5. Immune Dysregulation with Colitis No 0 0 612567 2023-02-28
MSMD1 Mendelian Susceptibility to mycobacterial disease 1 IL12RB1 deficiency | Immunodeficiency 30 | IMD30 IL12RB1 AR Loss of Function 1998 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) Ongoing 1 1 614891 2023-02-28
CANDF5 IL-17RA deficiency Immunodeficiency 51 | IMD51 | familial candidiasis type 5 | CMC5 | Candidiasis, familial, 5 IL17RA AR Loss of Function 2011 6.6. Predisposition to Mucocutaneous Candidiasis Ongoing 3 3 605658 2023-02-28
FVH Hepatitis, fulminant viral, suspectibility to IL18BP AR 2019 6.9. Other Inborn Errors of Immunity Related to Leukocytes No 0 0 618549 2023-02-28
OMPP Interleukin 1 receptor antagonist deficiency OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS IL1RN AR 2009 7.3. Non-Inflammasome Related Conditions No 0 0 612852 2023-02-28
CVID11 Immunodeficiency, common variable, 11 IL-21 deficiency IL21 AR 2014 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615767 2023-02-28
IMD56 Immunodeficiency 56 Immunodeficiency, primary, autosomal recessive, IL21R-related IL21R AR 2013 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615207 2023-02-28
IMD41 Immunodeficiency 41 with lymphoproliferation and autoimmunity IL2RA AR 1997 4.3. Regulatory T Cell Defects No 0 0 606367 2023-02-28
IMD63 Immunodeficiency 63 with lymphoproliferation and autoimmunity IL2RB AR 2019 4.3. Regulatory T Cell Defects No 0 0 618495 2023-02-28
CIDX Combined immunodeficiency, X-linked X-SCID | X-linked severe combined immunodeficiency IL2RG XLR Loss of Function 1995 0.0. Confirmed absent in IUIS reports No 0 0 312863 2023-02-28
HIES5 Hyper-IgE recurrent infection syndrome 5 IL6 receptor deficiency IL6R AR Loss of Function 2019 2.5. Hyper IgE Syndromes (HIES) No 0 0 618944 2023-02-28
HIES4B Hyper-IgE recurrent infection syndrome 4B IL6 signal transducer (complete) deficiency IL6ST AR Loss of Function 2017 2.5. Hyper IgE Syndromes (HIES) Yes 3 3 618523 2023-04-01
IMD130 Immunodeficiency 130 with HPV-related verrucosis Epidermodysplasia verruciformis, susceptibility to, 5 IL7 AR 2015 0.0. Confirmed absent in IUIS reports No 0 0 618309 2024-12-12
SCID2 Severe combined immunodeficiency due to IL7R deficiency IL7R-alpha deficiency | IMD104 | Immunodeficiency 104, severe combined IL7R AR Loss of Function 1998 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 608971 169154 2023-06-19
IPEX Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) FOXP3 XLR 2000 4.3. Regulatory T Cell Defects No 0 0 304790 2023-02-28
IIAE7 Susceptibility to acute infection-induced encephalopathy type 7 {Encephalopathy, acute, infection-induced, 7, susceptibility to} IRF3 AD 2015 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 616532 2023-02-28
IMD39 Immunodeficiency 39 IRF7 AR 2015 6.3. Predisposition to Severe Viral Infection No 0 0 616345 2023-02-28
IMD65 Immunodeficiency 65 IRF9 AR 2018 6.3. Predisposition to Severe Viral Infection No 0 0 618648 2023-02-28
LAD1 Leukocyte adhesion deficiency, type I LAD-1 ITGB2 AR 1990 5.2. Defects of Motility No 0 0 116920 2023-02-28
LPFS1 Lymphoproliferative syndrome 1 ITK AR 2009 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 613011 2023-02-28
IRF4-DN Combined immunodeficiency with skin-hair depigmentation Early-onset PAD with T cell anomalies and skin-hair depigmentation | Hypogammaglobulinemia, T cell abnormalities and skin-hair depigmentation IRF4 AD Negative Dominance 2023 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 4 4 2024-10-25
AIIDE Autoinflammation, immune dysregulation, and eosinophilia Autoinflammatory keratinization disease | AiKD | JAK1-GOF | JAK1 gain-of-function | JAK1 associated inflammatory disease | JAID | JAACD syndrome JAK1 AD Gain of Function 2017 4.4. Autoimmunity with or without Lymphoproliferation Yes 30 13 618999 33558 2024-11-09
SCID1 T-negative/B-positive SCID type 1 JAK3 deficiency | SCID, autosomal recessive, T-negative/B-positive type JAK3 AR Loss of Function 1995 1.1. T-B+ Severe Combined Immune Deficiency Ongoing 14 13 600802 35078 2024-01-19
IMD22 Immunodeficiency 22 LCK AR 2012 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 7 4 615758 2023-02-28
FANCV Fanconi anemia, complementation group V MAD2L2 AR 2016 9.1. Bone Marrow Failure syndromes No 0 0 617243 2023-02-28
IMD12 Immunodeficiency 12 MALT1 AR 2013 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615468 2023-02-28
MASP2D MASP2 deficiency MASP2 AR 2003 8.1. Complement Deficiency syndromes No 0 0 613791 2023-02-28
BLS2A Bare lymphocyte syndrome type 2A CIITA AR 1993 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 209920 2023-02-28
ICAS Asplenia, isolated congenital isolated congenital asplenia RPSA AD 2013 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 271400 101351 2023-07-27
IMD112 Immunodeficiency 112 Primary immunodeficiency with multifaceted aberrant lymphoid immunity MAP3K14 AR 2014 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620449 2023-02-28
IMD54 Immunodeficiency 54 MCM4 deficiency | immunodeficiency-54 | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | Russell-Silver syndrome MCM4 AR Loss of Function 2012 2.2. DNA Repair Defects Other Than Those Listed in 2.1 Yes 20 7 609981 75391 12383 2023-03-29
WSS Wiedemann-Steiner syndrome KMT2A AD 2012 2.9. Other defects Ongoing 1 1 605130 2023-02-28
KABUK1 Kabuki syndrome 1 Kabuki syndrome KMT2D AD 2010 2.9. Other defects No 0 0 147920 16512 2023-05-17
MPOD Myeloperoxidase deficiency MPO AR 1994 0.0. Confirmed absent in IUIS reports No 0 0 254600 2023-02-28
CVID5 Immunodeficiency, common variable, 5 CD20 deficiency | MS4A1 deficiency MS4A1 AR 2010 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 613495 2023-02-28
IMD50 Immunodeficiency 50 MSN XLR 2016 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 300988 2023-02-28
CIMAH Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MTHFD1 AR 2011 2.6. Defects of Vitamin B12 and Folate Metabolism No 0 0 617780 2023-02-28
IMD68 Immunodeficiency 68 MYD88 AR 2008 6.7. TLR Signaling Pathway Deficiency No 0 0 612260 2023-02-28
CGD1 Granulomatous disease, chronic, 1 NCF1 AR 1991 5.3. Defects of Respiratory Burst No 0 0 233700 2023-02-28
CGD2 Granulomatous disease, chronic, 2 NCF2 AR 1995 5.3. Defects of Respiratory Burst No 0 0 233710 2023-02-28
CGD3 Granulomatous disease, chronic, 3 NCF4 AR 2009 5.3. Defects of Respiratory Burst No 0 0 613960 2023-02-28
1120 Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) NSMCE3 AR 2016 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 617241 2023-02-28
IMDDHH Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) NFE2L2 AD 2017 2.9. Other defects No 0 0 617744 2023-02-28
CVID12 NFKB1 insufficiency NFKB1 haploinsufficiency | Immunodeficiency, common variable, 12 NFKB1 AD Haploinsufficiency 2015 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Yes 317 150 616576 14697 2024-01-18
EDAID2 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency NFKBIA AD Gain of Function 2003 2.7. Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID) Ongoing 1 1 612132 2023-02-28
1157 Immunodeficiency due to Purine nucleoside phosphorylase deficiency PNP AR 1987 2.9. Other defects No 0 0 613179 2023-02-28
1236 Prolidase deficiency PEPD AR 1990 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 170100 2023-02-28
XPPD Properdin deficiency, X-linked CFP XLR 1995 8.1. Complement Deficiency syndromes No 0 0 312060 2023-02-28
CVID10 Immunodeficiency, common variable, 10 NFKB2 haploinsufficiency NFKB2 AD Haploinsufficiency 2013 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Ongoing 9 5 615577 14260 2023-02-28
OTFCS2 Otofaciocervical syndrome 2 Fara-Chlupackova syndrome | OFC syndrome | PAX1 deficiency | Otofaciocervical syndrome PAX1 AR Loss of Function 2013 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Yes 14 6 615560 2792 14254 2023-03-31
IMD23 Immunodeficiency 23 PGM3 AR 2014 2.5. Hyper IgE Syndromes (HIES) No 0 0 615816 2023-02-28
APDS1 Activated p110-delta syndrome 1 activated PI3K delta syndrome | Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-GOF | immunodeficiency 14A | IMD14A PIK3CD AD Gain of Function 2006 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Ongoing 66 41 615513 397596 18338 2023-02-28
ALPS3 Autoimmune lymphoproliferative syndrome type III PRKCD AR 2013 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 615559 2023-02-28
STISS Stankiewicz-Isidor syndrome with or without autoinflammation Stankiewicz-Isidor syndrome PSMD12 AD Haploinsufficiency 2017 0.0. Confirmed absent in IUIS reports No 0 0 617516 2023-02-28
PAPA Pyogenic sterile arthritis, pyoderma gangrenosum, and acne PAPA syndrome PSTPIP1 AD 2002 7.3. Non-Inflammasome Related Conditions No 0 0 604416 2023-02-28
IMD26 Immunodeficiency 26 with or without neurologic abnormalities DNA PKcs deficiency PRKDC AR 2009 1.2. T-B- Severe Combined Immune Deficiency No 0 0 615966 317425 2023-02-28
SCID3 Severe combined immunodeficiency due to PTPRC deficiency CD45 deficiency | Immunodeficiency 105, severe combined | IMD105 PTPRC AR Loss of Function 2000 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 619924 169157 2023-06-19
NBSLD Nijmegen breakage syndrome-like disorder RAD50 AD 2009 9.1. Bone Marrow Failure syndromes No 0 0 613078 2023-02-28
IIAE3 Susceptibility to acute infection-induced encephalopathy type 3 {Encephalopathy, acute, infection-induced, 3, susceptibility to} RANBP2 AD 2009 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 608033 2023-02-28
IMD64 Immunodeficiency 64 RASGRP1 AR 2016 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 618534 2023-02-28
AIFBL3 Familial Behcet-like autoinflammatory disease-3 Mucocutaneous ulceration, chronic RELA AD Haploinsufficiency 2017 7.1. Type 1 Interferonopathies No 0 0 618287 2024-05-12
IMD53 Immunodeficiency 53 RELB AR 2015 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 617585 2023-02-28
IMD42 Immunodeficiency 42 RORC AR 2015 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 616622 2023-02-28
CHARGEB CHARGE syndrome B SEMA3E AD 2004 2.3. Thymic Defects with Additional Congenital Anomalies No 0 0 214800 2023-02-28
XLP1 Lymphoproliferative syndrome, X-linked, 1 lymphoproliferative syndrome | XLP-1 SH2D1A XLR 1998 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 308240 16537 2023-05-17
BLS2C Bare lymphocyte syndrome type 2C MHC class II deficiency 3 | MHC2D3 RFX5 AR 1995 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620816 2023-02-28
MHC2D2 MHC class II deficiency 2 RFXANK AR 1998 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620815 2023-02-28
BLS2D Bare lymphocyte syndrome type 2D MHC class II deficiency 4 | MHC2D4 RFXAP AR 1997 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620817 2023-02-28
RENI RENI syndrome SGPL1 deficiency | Nephrotic syndrome 14 SGPL1 AR 2017 2.9. Other defects No 0 0 617575 2023-02-28
CHERUB Cherubism SH3BP2 AD 2001 7.3. Non-Inflammasome Related Conditions No 0 0 118400 2023-02-28
THES2 Trichohepatoenteric syndrome 2 SKIC2 AR 2012 2.9. Other defects No 0 0 614602 2023-02-28
FHL7 Lysinuric protein intolerance Hemophagocytic lymphohistiocytosis, familial, 7 | SLC7A7 deficiency SLC7A7 AR 1999 4.1. Familial Hemophagocytic Lymphohistiocytosis No 0 0 222700 2023-02-28
SGD2 Specific granule defiency 2 SMARCD2 AR 2017 5.1. Congenital Neutropenias No 0 0 617475 2023-02-28
SCN8 Severe congenital neutropenia 8 SRP54 AD 2017 5.1. Congenital Neutropenias No 0 0 618752 2023-02-28
BMF1 Bone marrow failure syndrome 1 bone marrow failure syndrome SRP72 AD 2012 9.1. Bone Marrow Failure syndromes No 0 0 614675 159 2023-05-17
TIACM T-cell immunodeficiency, autoimmunity, and cardiac malformations T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations STK4 AR 2012 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 1 1 614868 2023-02-28
SIOD Schimke immunoosseous dysplasia SMARCAL1 AR 2002 2.4. Immuno-osseous Dysplasias No 0 0 242900 1830 2023-02-28
FHL4 Hemophagocytic lymphohistiocytosis, familial, 4 familial hemophagocytic lymphohistiocytosis 4 STX11 AR 2005 4.1. Familial Hemophagocytic Lymphohistiocytosis No 0 0 603552 2023-02-28
FHL5 Hemophagocytic lymphohistiocytosis, familial 5 familial Hemophagocytic lymphohistiocytosis 5 | Munc18-2 deficiency STXBP2 AR 2009 4.1. Familial Hemophagocytic Lymphohistiocytosis Ongoing 1 1 613101 2023-02-28
BLS1C Bare lymphocyte syndrome type 1C TAPBP AR 2002 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 604571 2023-02-28
BTHS Barth syndrome 3-Methylglutaconic aciduria, type II TAFAZZIN XLR 1996 5.1. Congenital Neutropenias No 0 0 302060 2023-02-28
IIAE8 Susceptibility to acute infection-induced encephalopathy type 8 {Encephalopathy, acute, infection-induced, 8, susceptibility to} | TBK1 deficiency TBK1 AD 2012 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 617900 2023-05-25
AGM8A Agammaglobulinemia 8A E47 deficiency | E47 transcription factor deficiency TCF3 AD 2013 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 2 1 616941 2023-02-28
1639 Transcobalamin II deficiency TCN2 AR 1994 2.6. Defects of Vitamin B12 and Folate Metabolism No 0 0 275350 2023-02-28
LDS2 Loeys-Dietz syndrome, type 2 TGFBR2 AD 2004 2.5. Hyper IgE Syndromes (HIES) No 0 0 610168 2023-02-28
PFF Periodic fever, familial, TNF-receptor-associated TNF receptor-associated periodic syndrome TNFRSF1A AD Gain of Function 1999 7.3. Non-Inflammasome Related Conditions No 0 0 142680 2023-02-28
IMD16 Immunodeficiency 16 TNFRSF4 AR 2013 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615593 2023-02-28
OPTB1 Osteopetrosis, autosomal recessive 1 autosomal recessive osteopetrosis TCIRG1 AR 2000 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 259700 19026 2023-05-17
IMD46 Immunodeficiency 46 combined immunodeficiency by TfR1 deficiency TFRC AR 2016 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 616740 2024-02-02
AISBL Familial autoinflammatory Behcet-like syndrome Autoinflammatory syndrome, familial, Behcet-like TNFAIP3 AD Haploinsufficiency 2016 7.3. Non-Inflammasome Related Conditions Ongoing 1 1 616744 476102 100222 2023-03-22
HIGM3 Hyper-IgM syndrome type 3 CD40 deficiency | Immunodeficiency with hyper-IgM, type 3 CD40 AR 2001 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 606843 2023-02-28
LPFS2 Lymphoproliferative syndrome 2 CD27 deficiency CD27 AR Loss of Function 2012 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 615122 2023-02-28
OPTB2 Osteopetrosis, autosomal recessive 2 TNFSF11 AR 2007 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 259710 2023-02-28
ALPSIB Autoimmune lymphoproliferative syndrome, type IB FASLG AR 1996 4.6. Autoimmune Lymphoproliferative Syndrome (ALPS) No 0 0 601859 2023-02-28
LPFS3 Lymphoproliferative syndrome 3 CD70 AR 2017 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 618261 2023-02-28
IMD7 T-cell receptor-alpha/beta deficiency TRAC AR 2011 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615387 2023-02-28
IIAE5 Susceptibility to acute infection-induced encephalopathy type 5 {Encephalopathy, acute, infection-induced, 5, susceptibility to} TRAF3 AD Haploinsufficiency 2010 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 614849 2023-02-28
IMD35 Immunodeficiency 35 TYK2 AR 2006 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) Ongoing 1 1 611521 2023-02-28
HIGM1 Hyper-IgM syndrome type 1 X-linked hyper IgM syndrome | Hyper-IgM Immunodeficiency Syndrome, Type 1 | Immunodeficiency, with hyper-IgM, type 1 CD40LG XLR 1993 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 308230 3947 2023-05-17
IMD13 Immunodeficiency 13 UNC119 AR 2012 0.0. Confirmed absent in IUIS reports No 0 0 2023-02-28
HIGM5 Hyper-IgM syndrome type 5 Immunodeficiency with hyper-IgM, type 5 UNG AD 2003 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM No 0 0 608106 2023-02-28
PTORCH2 Pseudo-TORCH syndrome 2 USP18 AR 2016 7.1. Type 1 Interferonopathies No 0 0 617397 2023-02-28
KABUK2 Kabuki syndrome 2 KDM6A XLD 2012 2.9. Other defects No 0 0 300867 2023-02-28
WAS2 Wiskott-Aldrich syndrome 2 WIPF1 AR 2012 2.1. Immunodeficiency with Congenital Thrombocytopenia No 0 0 614493 2023-02-28
FANCU Fanconi anemia, complementation group U XRCC2 AR 2012 9.1. Bone Marrow Failure syndromes No 0 0 617247 2023-02-28
CVID13 Immunodeficiency, common variable, 13 IKAROS deficiency | IKAROS haploinsufficiency IKZF1 AD Haploinsufficiency 2012 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Ongoing 7 3 616873 2023-02-28
HIGM2a Hyper-IgM syndrome type 2 Immunodeficiency with hyper-IgM, type 2a AICDA AR 2000 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM Ongoing 2 1 605258 2024-03-07
ADMFD Autoimmune disease, syndromic multisystem, with facial dysmorphism ITCH AR 2010 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 613385 2023-02-28
IIAE1 Susceptibility to acute infection-induced encephalopathy type 1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} | UNC93B1 deficiency UNC93B1 AR 2006 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 610551 166 2024-05-04
CVID19 Immunodeficiency, common variable, 19 Immunodeficiency 61 | IMD61 | SH3KBP1 deficiency | CIN85 deficiency SH3KBP1 XLR Loss of Function 2018 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 300310 2023-02-28
IMD60 Immunodeficiency 60 BACH2 AD 2017 4.3. Regulatory T Cell Defects No 0 0 618394 2023-02-28
AGM4 Agammaglobulinemia 4 BLNK deficiency BLNK AR Loss of Function 1999 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia Ongoing 2 1 613502 2023-02-28
IMD66b Immunodeficiency 66 neutropenia due to MKL1 deficiency MRTFA AR Loss of Function 2015 5.2. Defects of Motility No 0 0 618847 2024-06-15
DKC2 Dyskeratosis congenita, autosomal recessive 2 NHP2 AR 2008 9.1. Bone Marrow Failure syndromes No 0 0 613987 2023-02-28
DKC1 Dyskeratosis congenita, autosomal recessive 1 NOP10 AR 2007 9.1. Bone Marrow Failure syndromes No 0 0 224230 2023-02-28
MJDS Majeed syndrome chronic recurrent multifocal osteomyelitis LPIN2 AR 2005 7.3. Non-Inflammasome Related Conditions No 0 0 609628 9813 2023-02-28
SCN5 Severe congenital neutropenia 5 VPS45 AR 2013 5.1. Congenital Neutropenias No 0 0 615285 2023-02-28
ICF3 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 CDCA7 AR 2015 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 616910 2023-02-28
OPTB8 Osteopetrosis, autosomal recessive 8 SNX10 AR 2012 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 615085 2023-02-28
PSOR14 Psoriasis 14, pustular IL36RN AR 2011 7.3. Non-Inflammasome Related Conditions No 0 0 614204 2023-02-28
IMD74 Immunodeficiency 74, COVID-19 related TLR7 XLR 2020 6.7. TLR Signaling Pathway Deficiency No 0 0 301051 2023-02-28
NS Netherton syndrome Comel-Netherton syndrome | bamboo hair syndrome SPINK5 AR Loss of Function 2000 2.5. Hyper IgE Syndromes (HIES) Ongoing 3 3 256500 634 9735 2023-02-28
PGBMAI Polyglucosan body myopathy, auto-inflammation and immunodeficiency polyglucosan body myopathy with or without immunodeficiency RBCK1 AR 2012 2.9. Other defects No 1 1 615895 192 2023-05-17
KIND1 Kindler syndrome FERMT1 AR 2003 4.3. Regulatory T Cell Defects No 0 0 173650 2023-02-28
AGS5 Aicardi-Goutieres syndrome 5 SAMHD1 AR 2009 7.1. Type 1 Interferonopathies No 2 2 612952 2023-02-28
HIES3 Hyper-IgE recurrent infection syndrome 3 ZNF341 deficiency ZNF341 AR Loss of Function 2018 2.5. Hyper IgE Syndromes (HIES) Yes 20 12 618282 641368 32654 2023-03-28
IMD103 Immunodeficiency 103, susceptibility to fungal infection Candidiasis, familial, 2 | CMC2 | familial chronic mucocutaneous candidiasis 2 | CARD9 deficiency | CANDF2 CARD9 AR Loss of Function 2009 6.5. Predisposition to Invasive Fungal Diseases Ongoing 5 5 212050 2023-06-19
CANDF6 Candidiasis, familial, 6 IL17F AD 2011 6.6. Predisposition to Mucocutaneous Candidiasis No 0 0 613956 2023-02-28
SNC3 Severe congenital neutropenia 3 HAX1 AR 2007 5.1. Congenital Neutropenias No 0 0 610738 2023-02-28
EV3 Epidermodysplasia verruciformis, susceptibility to, 3 CIB1 AR 2018 6.2. Epidermodysplasia verruciformis (HPV) No 0 0 618267 2023-02-28
IMD59 Immunodeficiency 59 and hypoglycemia HYOU1 AR 2017 5.1. Congenital Neutropenias No 0 0 233600 2023-02-28
ACNINV1 Acne inversa, familial 1 familial acne inversa NCSTN AD 2010 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 142690 24516 2023-05-17
CVID16 TRNT1 deficiency Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | Immunodeficiency, common variable, 16 TRNT1 AR 2014 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 616084 2023-02-28
CVID4 Immunodeficiency, common variable, 4 BAFFR deficiency TNFRSF13C AR 2009 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 613494 2023-02-28
IMD67 Immunodeficiency 67 IRAK4 AR 2003 6.7. TLR Signaling Pathway Deficiency No 0 0 607676 2023-02-28
EV1 Epidermodysplasia verruciformis, susceptibility to, 1 epidermodysplasia verruciformis TMC6 AR 2002 6.2. Epidermodysplasia verruciformis (HPV) No 0 0 226400 9176 2023-05-17
CANDF9 Candiasis, familial, 9 IL17RC AR 2015 6.6. Predisposition to Mucocutaneous Candidiasis No 0 0 616445 2023-02-28
SPTCL T-cell lymphoma, subcutaneous panniculitis-like susceptibility to the development of subcutaneous panniculitis-like T-cell lymphoma HAVCR2 AR 2018 7.3. Non-Inflammasome Related Conditions No 0 0 618398 2023-02-28
AGS4 Aicardi-Goutieres syndrome 4 RNASEH2A AR 2006 7.1. Type 1 Interferonopathies No 0 0 610333 2023-02-28
SCID8 Immunodeficiency 52 LAT deficiency LAT AR 2016 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 617514 504523 2023-02-28
PSORS15 Psoriasis 15, pustular, susceptibility to AP1S3 AD 2014 7.3. Non-Inflammasome Related Conditions No 0 0 616106 2023-02-28
HIES2 Hyper-IgE recurrent infection syndrome 2 DOCK8 deficiency | Hyper-IgE syndrome 2 DOCK8 AR Loss of Function 2009 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 31 29 243700 2023-02-28
GIDID1 Gastrointestinal defects and immunodeficiency syndrome gastrointestinal defect and immunodeficiency syndrome TTC7A AR 2013 2.9. Other defects No 0 0 243150 30831 2023-05-17
PRAAS2 Proteasome-associated autoinflammatory syndrome 2 POMP AD 2010 7.3. Non-Inflammasome Related Conditions No 0 0 618048 2023-02-28
EV2 Epidermodysplasia verruciformis 2 TMC8 AR 2002 6.2. Epidermodysplasia verruciformis (HPV) No 0 0 618231 2023-02-28
FANCL Fanconi anemia, complementation group L FANCL AR 2003 9.1. Bone Marrow Failure syndromes No 0 0 614083 2023-02-28
AGM5 Agammaglobulinemia 5 Agammaglobulinemia type 5 LRRC8A AD 2003 0.0. Confirmed absent in IUIS reports No 0 0 613506 2023-02-28
SGMRT2 Singleton-Merten syndrome 2 SMS2 RIGI AD Gain of Function 2015 0.0. Confirmed absent in IUIS reports No 0 0 616298 2023-02-28
ICF2 Immunodeficiency-Centromeric Instability-Facial Anomalies 2 ZBTB24 AR 2011 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 614069 2023-02-28
OPTB5 Osteopetrosis, autosomal recessive 5 OSTM1 AR 2003 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 259720 2023-02-28
CVID14 Immunodeficiency, common variable, 14 IRF2BP2 haploinsufficiency IRF2BP2 AD Haploinsufficiency 2016 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Yes 18 13 617765 2024-03-14
FCAS2 Familial Cold Autoinflammatory Syndrome 2 NLRP12-associated hereditary periodic fever syndrome | NAPS12 NLRP12 AD 2008 7.2. Defects Affecting the Inflammasome Ongoing 2 2 611762 12724 2023-02-28
HKLLS2 Hennekam lymphangiectasia-lymphedema syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome-2 FAT4 AR 2014 2.9. Other defects No 0 0 616006 2023-02-28
LAD3 Leukocyte adhesion deficiency, type III FERMT3 AR 2009 5.2. Defects of Motility No 0 0 612840 2023-02-28
FANCP Fanconi anemia, complementation group P SLX4 AR 2011 9.1. Bone Marrow Failure syndromes No 0 0 613951 2023-02-28
AGS3 Aicardi-Goutieres syndrome 3 RNASEH2C AR 2006 7.1. Type 1 Interferonopathies No 0 0 610329 2023-02-28
2507 Histiocytosis-lymphadenopathy plus syndrome SLC29A3 AR 2008 7.3. Non-Inflammasome Related Conditions No 0 0 602782 2023-02-28
FHL3 Hemophagocytic Lymphohistiocytosis, familial, 3 familial Hemophagocytic lymphohistiocytosis 3 | Munc13-4 deficiency UNC13D AR 2003 4.1. Familial Hemophagocytic Lymphohistiocytosis Ongoing 0 0 608898 2023-02-28
THES1 Trichohepatoenteric syndrome 1 trichohepatoenteric syndrome SKIC3 AR 2010 2.9. Other defects No 0 0 222470 84064 9105 2023-05-17
2600 Nephropathy due to CFHR5 deficiency C3 glomerulopathy-3 CFHR5 AD 2010 8.1. Complement Deficiency syndromes No 0 0 614809 2023-02-28
SCN4 Severe congenital neutropenia 4 G6PC3 AR 2009 5.1. Congenital Neutropenias No 0 0 612541 2023-02-28
CDG2B Congenital disorder of glycosylation, type IIb MOGS AR 2000 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 606056 2023-02-28
FANCT Fanconi anemia, complementation group T UBE2T AR 2015 9.1. Bone Marrow Failure syndromes No 0 0 616435 2023-02-28
AIPDS Autoinflammation, panniculitis, and dermatosis syndrome otulipenia | ORAS | OTULIN-related autoinflammatory syndrome OTULIN AR Loss of Function 2016 7.3. Non-Inflammasome Related Conditions Yes 9 7 617099 2023-12-01
FANCW Fanconi anemia, complementation group W RFWD3 AR 2017 9.1. Bone Marrow Failure syndromes No 0 0 617784 2023-02-28
FANCI Fanconi anemia, complementation group I FANCI AR 2007 9.1. Bone Marrow Failure syndromes No 0 0 609053 2023-02-28
AGS2 Aicardi-Goutieres syndrome 2 RNASEH2B AR 2006 7.1. Type 1 Interferonopathies No 0 0 610181 2023-02-28
DKC3 Dyskeratosis congenita 3 Dyskeratosis congenita, autosomal recessive, 3 | autosomal recessive dyskeratosis congenita 3 WRAP53 AR Loss of Function 2011 9.1. Bone Marrow Failure syndromes Ongoing 2 2 613988 13520 2023-02-28
SCID13 SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation Cernunnos deficiency | XLF deficiency NHEJ1 AR 2006 1.2. T-B- Severe Combined Immune Deficiency Ongoing 2 1 611291 169079 2023-02-28
SDS2 Shwachman-Diamond syndrome 2 EFL1 AR 2017 5.1. Congenital Neutropenias No 0 0 617941 2023-02-28
2696 Poikiloderma with neutropenia USB1 AR 2010 5.1. Congenital Neutropenias No 0 0 604173 2023-02-28
IMD9 Immunodeficiency 9 ORAI1 AR 2006 2.8. Calcium Channel Defects No 0 0 612782 2023-02-28
CRMCC1 Cerebroretinal microangiopathy with calcifications and cysts 1 Coats plus syndrome CTC1 AR 2012 9.1. Bone Marrow Failure syndromes No 0 0 612199 12815 2023-05-17
2734 Cerebroretinal microangiopathy with calcifications and cysts 2 STN1 AR 2016 9.1. Bone Marrow Failure syndromes No 0 0 617341 2023-02-28
RIDDLE RIDDLE syndrome RNF168 AR 2009 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 611943 2023-02-28
JUVAR Juvenile arthritis LACC1 deficiency LACC1 AR Loss of Function 2015 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 618795 2023-02-28
BMFS2 Bone marrow failure syndrome 2 Hebo deficiency ERCC6L2 AR 2014 9.1. Bone Marrow Failure syndromes No 0 0 615715 2023-02-28
SCN6 Severe congenital neutropenia 6 JAGN1 AR 2014 5.1. Congenital Neutropenias No 2 1 616022 2023-02-28
SAVI1 STING-associated vasculopathy, infantile-onsent, 1 STING1 AD Gain of Function 2014 7.1. Type 1 Interferonopathies No 0 0 615934 2023-02-28
CGD5 Granulomatous disease, chronic, 5 CYBC1 AR 2017 5.3. Defects of Respiratory Burst No 0 0 618935 2023-02-28
XMEN Immunodeficiency, X-linked, with magnesium defect, EBV infection and neoplasia MAGT1 XLR 2008 4.7. Susceptibility to EBV and Lymphoproliferative Conditions Ongoing 1 1 300853 2023-02-28
IMD58 Immunodeficiency 58 RLTPR deficiency CARMIL2 AR Loss of Function 2016 4.7. Susceptibility to EBV and Lymphoproliferative Conditions Ongoing 1 1 618131 2023-02-28
IMD55 Immunodeficiency 55 Combined immunodeficiency due to GINS1 deficiency | Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia GINS1 AR Loss of Function 2017 2.2. DNA Repair Defects Other Than Those Listed in 2.1 Yes 6 5 617827 505227 44725 2023-10-23
VICIS Vici syndrome EPG5 AR 2013 2.9. Other defects No 0 0 242840 2023-02-28
HKLLS1 Hennekam lymphangiectasia-lymphedema syndrome Hennekam syndrome CCBE1 AR 2009 2.9. Other defects No 0 0 235510 16256 2023-05-17
IMDYSHI Immune dysregulation and systemic hyperinflammation syndrome RC3H1 AR 2019 0.0. Confirmed absent in IUIS reports No 0 0 618998 2023-02-28
2940 Immunodeficiency due to defect in MAPBP-interacting protein LAMTOR2 AR 2007 5.1. Congenital Neutropenias No 0 0 610798 2023-02-28
ACNINV2 Acne inversa, familial, 2, with or without Dowling-Degos disease PSENEN AD 2010 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 613736 2023-02-28
2985 Folate malabsorption, hereditary SLC46A1 AR 2006 2.6. Defects of Vitamin B12 and Folate Metabolism No 0 0 229050 2023-02-28
GPS Gray platelet syndrome with/without autoimmunity Gray platelet syndrome and autoimmunity | NBEAL2 deficiency NBEAL2 AR Loss of Function 2011 4.3. Regulatory T Cell Defects No 0 0 139090 2023-02-28
MGCA7B 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria type 7B CLPB AR 2015 5.1. Congenital Neutropenias Ongoing 2 1 616271 445038 2023-02-28
RFMN Roifman syndrome RNU4ATAC AR 2015 2.4. Immuno-osseous Dysplasias No 0 0 616651 2023-02-28
AGM10 Agammaglobulinemia 10 PU.1-mutated agammaglobulinemia SPI1 AD 2021 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 619707 2023-02-28
IGHD3 Isolated growth hormone deficiency, type III with agammaglobulinemia Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia BTK XLR 1994 0.0. Confirmed absent in IUIS reports Ongoing 0 0 307200 10615 2023-03-20
AGMX1 Agammaglobulinemia, X-linked 1 X-linked agammaglobulinemia 1 | BTK | Bruton's type agammaglobulinemia | Bruton's agammaglobulinaemia | XLA1 BTK XLR Loss of Function 1993 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia Ongoing 3 3 300755 47 21094 2023-05-17
HMS Haim-Munk syndrome CTSC AR 2000 0.0. Confirmed absent in IUIS reports No 0 0 245010 2023-02-28
PALS Papillon-Lefevre syndrome CTSC AR 1999 5.2. Defects of Motility No 0 0 245000 2023-02-28
PDJ1 Periodontitis 1, juvenile CTSC AR 2000 0.0. Confirmed absent in IUIS reports No 0 0 170650 2023-02-28
SCN1 Severe congenital neutropenia 1 Elastase deficiency ELANE AD 2000 5.1. Congenital Neutropenias No 0 0 202700 18542 2023-05-17
NPc Neutropenia, cyclic ELANE AD 1999 0.0. Confirmed absent in IUIS reports No 0 0 162800 2023-02-28
IMD21 Immunodeficiency 21 GATA2 deficiency GATA2 AD 2011 5.4. Other Non-Lymphoid Defects No 1 1 614172 2023-02-28
DADA2 Adenosine deaminase 2 deficiency Deficiency of ADA2 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 AR Loss of Function 2014 7.1. Type 1 Interferonopathies Ongoing 108 67 615688 404553 14306 2024-07-28
CGDX Granulomatous disease, chronic, X-linked chronic granulomatous disease CYBB XLR Loss of Function 1989 5.3. Defects of Respiratory Burst No 0 0 306400 18305 2023-05-17
IMD34 Immunodeficiency 34 CYBB XLR Loss of Function 2011 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 306445 2023-02-28
SCN2 Severe congenital neutropenia 2 GFI1 AD 2003 5.1. Congenital Neutropenias No 0 0 613107 2023-02-28
NI-CINA Neutropenia, nonimmune chronic idiopathic, of adults GFI1 AD 2003 0.0. Confirmed absent in IUIS reports No 0 0 607847 2023-02-28
IMD32A Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency) IRF8 AD 2011 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 614893 2023-02-28
IMD32B Immunodeficiency 32B (monocyte and dendritic cell deficiency) IRF8 AR 2011 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 226990 2023-02-28
FANCQ Fanconi anemia, complementation group Q ERCC4 AR 2013 9.1. Bone Marrow Failure syndromes No 0 0 615272 2023-02-28
GSD1B Glycogen storage disease Ib G6PT1 deficiency SLC37A4 AR 1998 5.1. Congenital Neutropenias No 0 0 232220 2023-02-28
IMD33 Immunodeficiency 33 IKBKG XLR 2004 0.0. Confirmed absent in IUIS reports No 0 0 300636 2023-02-28
EDAID1 Ectodermal dysplasia and immunodeficiency 1 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency | XL-EDA-ID IKBKG XLR 2000 2.7. Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID) No 1 1 300291 10293 2023-05-17
MSMD3 Mendelian Susceptibility to mycobacterial disease 3 Immunodeficiency 29 | IMD29 IL12B AR 1998 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 614890 2023-02-28
RALD2 RAS-associated autoimmune lymphoproliferative syndrome type IV NRAS So Gain of Function 2007 10.1. Phenocopies of Inborn Errors of Immunity No 0 0 614470 2023-02-28
SCID14 LIG4 syndrome DNA ligase IV deficiency LIG4 AR Loss of Function 2001 1.2. T-B- Severe Combined Immune Deficiency No 0 0 606593 99812 2023-08-25
MEVA Mevalonic aciduria Mevalonate kinase deficiency MVK AR 1992 7.2. Defects Affecting the Inflammasome No 0 0 610377 2023-02-28
HIDS Hyper-IgD syndrome Mevalonate kinase deficiency MVK AR 1999 7.2. Defects Affecting the Inflammasome No 0 0 260920 2023-02-28
AGM7 Agammaglobulinemia 7 p85 deficiency PIK3R1 AR 2012 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia Ongoing 0 0 615214 2023-02-28
APDS2 Activated p110-d syndrome 2 Immunodeficiency 36 | IMD36 PIK3R1 AD 2014 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Ongoing 3 3 616005 2023-02-28
FCAS3 Familial cold autoinflammatory syndrome 3 PLAID PLCG2 AD Gain of Function 2012 7.2. Defects Affecting the Inflammasome No 0 0 614468 2023-09-18
APLAID Autoinflammation, antibody deficiency, and immune dysregulation syndrome PLCG2 AD Gain of Function 2012 7.2. Defects Affecting the Inflammasome No 0 0 614878 2023-04-02
PDR Pigmentary disorder, reticulate, with systemic manifestations, X-linked X-linked reticulate pigmentary disorder | POLA1 deficiency POLA1 XLR 2016 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 301220 2023-02-28
VEODS Van Esch-O'Driscoll syndrome X-linked reticulate pigmentary disorder POLA1 XLR 2019 7.1. Type 1 Interferonopathies No 0 0 301030 2023-02-28
PTEND PTEN deficiency PTEN LOF PTEN AD Loss of Function 2017 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 2023-02-28
GS2 Griscelli syndrome, type 2 RAB27A AR 2000 4.2. FHL Syndromes with Hypopigmentation No 0 0 607624 2023-02-28
FHL2 Hemophagocytic lymphohistiocytosis, familial, 2 Familial Hemophagocytic lymphohistiocytosis 2 | Perforin deficiency PRF1 AR 1999 4.1. Familial Hemophagocytic Lymphohistiocytosis No 0 0 603553 2023-02-28
CWS1 Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome | PTEN hamartoma tumor syndrome | Lhermitte-Duclos disease PTEN AD 1997 0.0. Confirmed absent in IUIS reports No 0 0 158350 16063 2023-05-17
3754 Macrocephaly/autism syndrome PTEN AD 2005 0.0. Confirmed absent in IUIS reports No 0 0 605309 2023-02-28
FANCR Fanconi anemia, complementation group R RAD51 AD 2015 9.1. Bone Marrow Failure syndromes No 0 0 613390 2023-02-28
SCID9A Severe combined immunodeficiency 9A, T-B- RAG1 deficiency | T-B- SCID RAG1 AR 1996 1.2. T-B- Severe Combined Immune Deficiency Ongoing 13 12 601457 331206 31520 2023-05-17
OS2 Omenn syndrome 2 T+B- SCID RAG1 AR 1998 0.0. Confirmed absent in IUIS reports Ongoing 5 5 603554 2023-02-28
3777 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity RAG1 AR 2005 0.0. Confirmed absent in IUIS reports Ongoing 1 1 609889 2023-02-28
CCHIDG1 Combined cellular and humoral immune defects with granulomas 1 RAG1 AR 2008 0.0. Confirmed absent in IUIS reports Ongoing 1 1 233650 2023-02-28
OS3 Omenn syndrome 3 T+B- SCID RAG2 AR 1998 0.0. Confirmed absent in IUIS reports Ongoing 2 2 603554 2023-02-28
CCHIDG2 Combined cellular and humoral immune defects with granulomas 2 RAG2 AR 2008 0.0. Confirmed absent in IUIS reports Ongoing 0 0 233650 2023-02-28
RTS2 Rothmund-Thomson syndrome RECQL4 AR 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 268400 2023-02-28
CHH Cartilage-hair hypoplasia RMRP AR 2001 2.4. Immuno-osseous Dysplasias No 0 0 250250 2023-02-28
MDWH Metaphyseal dysplasia without hypotrichosis RMRP AR 2002 0.0. Confirmed absent in IUIS reports No 0 0 250460 2023-02-28
IMD44 Immunodeficiency 44 STAT2 deficiency STAT2 AR 2013 6.3. Predisposition to Severe Viral Infection No 0 0 616636 2023-02-28
PTORCH3 Pseudo-TORCH syndrome 3 STAT2-LOF STAT2 AR Loss of Function 2019 7.1. Type 1 Interferonopathies No 0 0 618886 2023-02-28
IMAD1 Infantile-Onset Multisystem Autoimmune Disease 1 STAT3-GOF | STAT3-related early-onset multisystem autoimmune disease | autoimmune disease, multisystem, infantile-onset, 1 STAT3 AD Gain of Function 2014 4.3. Regulatory T Cell Defects Yes 66 57 615952 438159 14414 2023-04-01
aHUS6 Hemolytic uremic syndrome, atypical, susceptibility to, 6 THBD AD 2009 0.0. Confirmed absent in IUIS reports No 0 0 612926 2023-02-28
THC1 Thrombocytopenia 1 inherited thrombocytopenia WAS XLR 1995 0.0. Confirmed absent in IUIS reports Ongoing 0 0 313900 100241 2023-05-17
SCNX Severe congenital neutropenia, X-linked WAS XLR Gain of Function 2001 5.1. Congenital Neutropenias Ongoing 0 0 300299 2023-02-28
IMD49 Immunodeficiency 49 BCL11B AD 2016 2.9. Other defects Ongoing 0 0 617237 2023-02-28
IDDSFTA Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities BCL11B AD 2018 0.0. Confirmed absent in IUIS reports Ongoing 1 1 618092 2023-02-28
HIES1 Hyper-IgE recurrent infection syndrome 1 STAT3 deficiency | Job syndrome | STAT3-LOF | AD-HIES STAT3 AD Negative Dominance 2007 2.5. Hyper IgE Syndromes (HIES) Yes 406 329 147060 2314 7818 2023-04-01
DKCA1 Dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita TERC AD 2001 9.1. Bone Marrow Failure syndromes No 0 0 127550 15780 2023-05-17
PFBMFT2 Pulmonary fibrosis and/or bone marrow failure, telomere-related 2 Aplastic anemia, 1 | AA1 TERC AD 2002 0.0. Confirmed absent in IUIS reports No 0 0 614743 2023-02-28
ILFS2 Infantile liver failure syndrome 2 NBAS AR 2015 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 616483 2023-02-28
CINCA CINCA syndrome Chronic Infantile Neurologic Cutaneous Articular syndrome | NOMID | Neonatal Onset Multisystem Inflammatory Disease NLRP3 AD 2002 7.2. Defects Affecting the Inflammasome No 0 0 607115 2023-02-28
MWS Muckle-Wells syndrome NLRP3 AD 2001 7.2. Defects Affecting the Inflammasome No 0 0 191900 2023-02-28
FCAS1 Familial cold inflammatory syndrome 1 familial cold autoinflammatory syndrome NLRP3 AD 2001 7.2. Defects Affecting the Inflammasome No 0 0 120100 18768 2023-05-17
LDS1 Loeys-Dietz syndrome, type 1 Loeys-Dietz syndrome TGFBR1 AD 2005 2.5. Hyper IgE Syndromes (HIES) No 0 0 609192 18954 2023-05-17
THPH12 Thrombophilia 12 due to thrombomodulin defect Thrombomodulin deficiency THBD AD 1995 8.1. Complement Deficiency syndromes No 0 0 614486 2023-02-28
DKCA3 Dyskeratosis congenita, autosomal dominant 3 TINF2 AD 2008 9.1. Bone Marrow Failure syndromes No 0 0 613990 2023-02-28
DKCA5 Revesz syndrome DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5 TINF2 AD 2008 9.1. Bone Marrow Failure syndromes No 0 0 268130 2023-02-28
BMFS5 Bone marrow failure syndrome 5 TP53 AD 2018 9.1. Bone Marrow Failure syndromes No 0 0 618165 2023-02-28
AIFEC Autoinflammation with infantile enterocolitis macrophage activatingsyndrome | NLRC4-MAS NLRC4 AD Gain of Function 2014 7.2. Defects Affecting the Inflammasome No 0 0 616050 2023-02-28
FCAS4 Familial cold autoinflammatory syndrome 4 NLRC4 AD Gain of Function 2014 7.2. Defects Affecting the Inflammasome No 0 0 616115 2023-02-28
PSORS2 Psoriasis 2 CAMPS | CARD14 mediated psoriasis CARD14 AD 2012 7.3. Non-Inflammasome Related Conditions No 0 0 602723 2023-02-28
CDG2C Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type II SLC35C1 AR 2001 5.2. Defects of Motility No 0 0 266265 2023-02-28
SLES21 susceptibility to Systemic lupus erythematosus 21 Systemic lupus erythematosus, susceptibility to, 21 TREX1 AD 2007 0.0. Confirmed absent in IUIS reports No 0 0 152700 536 2023-02-28
WAS Wiskott-Aldrich syndrome IMMUNODEFICIENCY 2 | IMD2 | WISKOTT-ALDRICH SYNDROME 1 | WAS1 WAS XLR Loss of Function 1994 2.1. Immunodeficiency with Congenital Thrombocytopenia Ongoing 3 3 301000 2023-02-28
ADMIO2 Autoimmune disease, multisystem, infantile-onset 2 ZAP70 AR 2016 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 617006 2023-02-28
IMD48 Immunodeficiency 48 ZAP70 AR 1994 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 269840 2023-02-28
OS1 Omenn syndrome, 1 DCLRE1C AR 2005 0.0. Confirmed absent in IUIS reports No 0 0 603554 39041 2023-02-28
SCID11 Severe combined immunodeficiency, Athabascan type ARTEMIS deficiency DCLRE1C AR 2001 1.2. T-B- Severe Combined Immune Deficiency No 0 0 602450 275 2023-02-28
AGS7 Aicardi-Goutieres syndrome 7 IFIH1 AD Gain of Function 2014 7.1. Type 1 Interferonopathies No 0 0 615846 2023-02-28
CHBL1 Familial chilblain lupus childblain lupus TREX1 AD 2007 0.0. Confirmed absent in IUIS reports No 0 0 610448 481662 18827 2023-05-17
RVCL Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations TREX1 deficiency | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations TREX1 AD 2007 7.1. Type 1 Interferonopathies No 0 0 192315 247691 2023-02-28
aHUS1b Hemolytic-uremic syndrome, atypical, susceptibility to, 1 hemolytic-uremic syndrome CFHR1 AD/AR 2007 8.1. Complement Deficiency syndromes No 0 0 235400 93581 1549 2023-05-17
CHARGE-I CHARGE syndrome, I CHD7 AD 2004 2.3. Thymic Defects with Additional Congenital Anomalies No 0 0 214800 2023-02-28
PRAAS3A Proteasome-associated autoinflammatory syndrome 3a Proteasome-associated autoinflammatory syndrome 3 AND DIGENIC FORMS PSMB4 AR 2015 7.3. Non-Inflammasome Related Conditions No 0 0 617591 2023-02-28
PRAAS1 Proteasome-associated autoinflammatory syndrome 1 CANDLE | Proteasome-associated autoinflammatory syndrome 1 and digenic forms PSMB8 AR 2010 7.3. Non-Inflammasome Related Conditions No 0 0 256040 9726 2023-05-17
C1ID C1 inhibitor deficiency Complement component 4, partial deficiency of SERPING1 AD 1995 8.1. Complement Deficiency syndromes Ongoing 0 0 120790 459353 2023-02-28
APS1 Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia APECED AIRE AD/AR 1997 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 240300 3453 2024-09-09
4477 Hemolytic uremic syndrome, atypical, susceptibility to, 2 CD46 AD/AR 2003 8.1. Complement Deficiency syndromes No 0 0 612922 2134 2023-02-28
AGS1 Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome TREX1 AD/AR 2006 7.1. Type 1 Interferonopathies No 0 0 225750 51 18866 2023-05-17
aHUS4b Hemolytic-uremic syndrome, atypical, susceptibility to, 4 CFHR4 AD/AR 8.1. Complement Deficiency syndromes No 0 0 93581 2023-02-28
aHUS3b Hemolytic-uremic syndrome, atypical, susceptibility to, 3 hemolytic-uremic syndrome CFHR3 AD/AR 2007 8.1. Complement Deficiency syndromes No 0 0 235400 93581 1549 2023-05-17
IMD83 Herpes simplex encephalitis, susceptibility to, 2 Immunodeficiency 83, susceptibility to viral infections TLR3 AD/AR 2007 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 613002 1930 2023-02-28
ALPSIA Autoimmune lymphoproliferative syndrome, type IA FAS AR 1995 4.6. Autoimmune Lymphoproliferative Syndrome (ALPS) No 0 0 601859 3261 2023-02-28
IIAE6 Susceptibility to acute infection-induced encephalopathy type 6 {Encephalopathy, acute, infection-induced, 6, susceptibility to} TICAM1 AD/AR 2011 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 614850 1930 2023-02-28
ATM Ataxia-telangiectasia A-T | Louis-Bar syndrome ATM AR Loss of Function 1995 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 208900 100 2023-02-28
FANCJ Fanconi anemia, complementation group J Fanconi anemia BRIP1 AR 2005 9.1. Bone Marrow Failure syndromes No 0 0 609054 84 19391 2023-05-17
FMF-AR Familial Mediterranean fever, AR Autosomal recessive Familial Mediterranean fever MEFV AR 7.2. Defects Affecting the Inflammasome No 0 0 249100 342 2023-02-28
FMF-AD Familial Mediterranean Fever, AD autosomal dominant Familial Mediterranean Fever MEFV AD 7.2. Defects Affecting the Inflammasome No 0 0 134610 342 2023-02-28
DKCA6 Dyskeratosis congenita, autosomal dominant 6 ACD AD 2014 9.1. Bone Marrow Failure syndromes No 0 0 616553 2023-02-28
DKCB7 Dyskeratosis congenita, autosomal recessive 7 ACD AR 2014 9.1. Bone Marrow Failure syndromes No 0 0 616553 2023-02-28
DKCB5 Autosomal recessive dyskeratosis congenita-5 Dyskeratosis congenita, autosomal recessive 5 RTEL1 AR 2013 9.1. Bone Marrow Failure syndromes No 0 0 615190 1775 2023-05-26
DKCA4 Autosomal dominant dyskeratosis congenita-4 Dyskeratosis congenita, autosomal dominant 4 RTEL1 AD 2013 9.1. Bone Marrow Failure syndromes No 0 0 615190 1775 2023-05-26
HAYOS Harel-Yoon syndrome ATAD3 deficiency ATAD3A AD/AR 2016 7.1. Type 1 Interferonopathies No 0 0 617183 2023-02-28
C5D Complement component 5 deficiency C5 deficiency C5 AR 1995 8.1. Complement Deficiency syndromes No 0 0 609536 2023-02-28
BENTA B-cell expansion with NFKB and T-cell anergy CARD11 AD Gain of Function 2012 2.5. Hyper IgE Syndromes (HIES) No 0 0 616452 2023-02-28
PFBMFT3 Telomere-related pulmonary fibrosis and/or bone marrow failure-3 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 RTEL1 AD 2015 0.0. Confirmed absent in IUIS reports No 0 0 616373 2023-02-28
NBS Nijmegen breakage syndrome Berlin breakage syndrome | Immunodeficiency-microcephaly-chromosomal instability syndrome | Ataxia-telangiectasia, variant 1 NBN AR 1998 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 251260 647 2023-02-28
AGS6 Aicardi-Goutieres syndrome 6 ADAR1 deficiency ADAR AR Loss of Function 2012 7.1. Type 1 Interferonopathies No 0 0 615010 2024-07-28
IMD11A Immunodeficiency 11A CARD11-associated (severe) combined immunodeficiency CARD11 AR Loss of Function 2013 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615206 2023-02-28
aHUS4 Hemolytic uremic syndrome, atypical, susceptibility to, 4 Factor B GOF CFB AD Gain of Function 2007 8.1. Complement Deficiency syndromes No 0 0 612924 2023-02-28
FANCS Fanconi anemia, complementation group S BRCA1 AR 2012 9.1. Bone Marrow Failure syndromes Ongoing 1 1 617883 2023-02-28
FANCD1 Fanconi anemia, complementation group D1 BRCA2 AR 2002 9.1. Bone Marrow Failure syndromes No 0 0 605724 2023-02-28
EDSPD2 Ehlers-Danlos syndrome, periodontal type 2 C1s Periodontal Ehlers-Danlos C1S AD Gain of Function 2016 8.1. Complement Deficiency syndromes No 0 0 617174 2023-02-28
C1SD Complement component C1s deficiency C1 deficiency C1S AR 1998 8.1. Complement Deficiency syndromes No 0 0 613783 2023-02-28
CFBD Complement factor B deficiency CFB AR Loss of Function 2013 8.1. Complement Deficiency syndromes No 0 0 615561 2023-02-28
IMD27B Immunodeficiency 27B IFNGR1 AD 1999 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 615978 2023-02-28
IMD27A Immunodeficiency 27A IFNGR1 AR 1996 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 209950 2023-02-28
IMD15A Immunodeficiency 15A IKBKB AD Gain of Function 2018 2.7. Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID) No 0 0 618204 2023-02-28
C3D Complement component 3 deficiency C3 deficiency C3 AR Loss of Function 1990 8.1. Complement Deficiency syndromes No 0 0 613779 2023-02-28
aHUS5 Hemolytic uremic syndrome, atypical, susceptibility to, 5 C3 GOF C3 AD Gain of Function 2008 8.1. Complement Deficiency syndromes No 0 0 612925 2023-02-28
CADINS CADINS disease IMD11B | Immunodeficiency 11B with atopic dermatitis | CARD11-associated Atopy with Dominant Interference of NF-kB signalling CARD11 AD Negative Dominance 2017 3.4. Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells No 0 0 617638 2024-10-24
CHAPEL Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy CD55 deficiency CD55 AR 2017 8.1. Complement Deficiency syndromes No 0 0 226300 2023-02-28
aHUS1 Hemolytic uremic syndrome, atypical, 1 hemolytic-uremic syndrome CFH AD/AR 1997 8.1. Complement Deficiency syndromes No 0 0 235400 1549 2023-05-17
CFHD Complement factor H deficiency Factor H deficiency CFH AD/AR 1995 8.1. Complement Deficiency syndromes No 0 0 609814 2023-02-28
IMD15B Immunodeficiency 15B IKBKB AR Loss of Function 2013 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 615592 2023-02-28
MSPC Palmoplantar carcinoma, multiple self-healing NLRP1 GOF NLRP1 AD 2013 7.2. Defects Affecting the Inflammasome No 0 0 615225 2023-02-28
AIADK Autoinflammation with arthritis and dyskeratosis NLRP1 deficiency NLRP1 AR 2016 7.2. Defects Affecting the Inflammasome No 0 0 617388 2023-02-28
aHUS3 Hemolytic uremic syndrome, atypical, 3 CFI AD Loss of Function 2004 0.0. Confirmed absent in IUIS reports No 0 0 612923 2023-02-28
CFID Complement factor I deficiency Factor I deficiency CFI AR Loss of Function 1996 8.1. Complement Deficiency syndromes No 0 0 610984 2023-02-28
OPTA2 Osteopetrosis, autosomal dominant 2 CLCN7 AD 2001 0.0. Confirmed absent in IUIS reports No 0 0 166600 2023-02-28
OPTB4 Osteopetrosis, autosomal recessive 4 CLCN7 AR 2001 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 611490 2023-02-28
TLIND T-cell lymphopenia with or without nail dystrophy, AD FOXN1 haploinsufficiency FOXN1 AD Haploinsufficiency 2005 2.3. Thymic Defects with Additional Congenital Anomalies Yes 71 62 618806 169095 32928 2023-04-01
BLAUS Blau syndrome NOD2 AD Gain of Function 2001 7.3. Non-Inflammasome Related Conditions No 0 0 186580 2023-02-28
FANCN Fanconi anemia, complementation group N PALB2 AR 2007 9.1. Bone Marrow Failure syndromes No 0 0 610832 2023-02-28
PFBMFT4 Pulmonary fibrosis and/or bone marrow failure, telomere-related 4 PARN AD 2015 0.0. Confirmed absent in IUIS reports No 0 0 616371 2023-02-28
TIDAND T-cell immunodeficiency, congenital alopecia, and nail dystrophy Winged helix nude FOXN1 deficiency | Severe combined immunodeficiency due to FOXN1 deficiency FOXN1 AR Loss of Function 1999 2.3. Thymic Defects with Additional Congenital Anomalies Yes 16 12 601705 169095 11132 2023-04-01
DIAR6 Diarrhea 6 GUCY2C AD 2012 0.0. Confirmed absent in IUIS reports No 0 0 614616 2023-02-28
MMRCS3 Mismatch repair cancer syndrome 3 MSH6 AR 2005 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM No 0 0 619097 2023-02-28
DKCB6 Dyskeratosis congenita, autosomal recessive 6 PARN AR 2015 9.1. Bone Marrow Failure syndromes No 0 0 616353 2023-02-28
OPTA3 Osteopetrosis, autosomal dominant 3 PLEKHM1 AD 2008 0.0. Confirmed absent in IUIS reports No 0 0 618107 2023-02-28
OPTB6 Osteopetrosis, autosomal recessive 6 PLEKHM1 AR 2007 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 611497 2023-02-28
MMRCS4 Mismatch repair cancer syndrome 4 PMS2 deficiency PMS2 AR 2000 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 619101 2023-02-28
CVID21 Immunodeficiency, common variable, 21 RAC2 deficiency | IMD73C | Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia RAC2 AR Loss of Function 2015 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 618987 2023-02-28
FANCO Fanconi anemia goup O RAD51C AR 2010 9.1. Bone Marrow Failure syndromes No 0 0 613390 2023-02-28
FILSS FILS syndrome Polymerase epsilon subunit 1 deficiency POLE AR 2012 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 615139 2023-02-28
IMAGEIS IMAGE-I Polymerase epsilon subunit 1 deficiency POLE AR 2018 0.0. Confirmed absent in IUIS reports No 0 0 618336 2023-02-28
IMD73A Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis RAC2 AD 2000 5.2. Defects of Motility No 0 0 608203 2023-02-28
IMD73B Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia Activated RAC2 defect RAC2 AD Gain of Function 2019 1.2. T-B- Severe Combined Immune Deficiency No 0 0 618986 2023-02-28
M7MLS2 Monosomy 7 myelodysplasia and leukemia syndrome 2 SAMD9 AD 2017 0.0. Confirmed absent in IUIS reports No 0 0 619041 2023-02-28
MIRAGE Mirage syndrome SAMD9 AD Gain of Function 2016 9.1. Bone Marrow Failure syndromes No 0 0 617053 2023-02-28
IMD31A Immunodeficiency 31A, mycobacteriosis MSMD STAT1 AD Loss of Function 2001 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) Ongoing 0 0 614892 2023-02-28
IMD31B Immunodeficiency 31B, mycobacterial and viral infections STAT1 deficiency STAT1 AR Loss of Function 2003 6.3. Predisposition to Severe Viral Infection Ongoing 0 0 613796 2023-02-28
GHISID2 Growth hormone insensitivity syndrome with immune dysregulation 2 STAT5B-DN STAT5B AD Negative Dominance 2018 2.9. Other defects No 0 0 618985 2023-02-28
AIEFL Autoinflammation with episodic fever and lymphadenopathy RIPK1 AD-GOF RIPK1 AD Gain of Function 2020 7.2. Defects Affecting the Inflammasome No 0 0 618852 2024-07-24
IMD57 Immunodeficiency 57 with autoinflammation AR RIPK1 deficiency RIPK1 AR Loss of Function 2018 4.5. Immune Dysregulation with Colitis No 2 2 618108 2024-07-24
SDS1 Shwachman-Diamond syndrome 1 Shwachman-Diamond syndrome SBDS AR 2003 5.1. Congenital Neutropenias No 0 0 260400 9833 2023-05-17
IMD31C Immunodeficiency 31C IMD31C | STAT1-GOF | Immunodeficiency 31C, candidiasis, autosomal dominant | familial candidiasis 7 STAT1 AD Gain of Function 2011 6.6. Predisposition to Mucocutaneous Candidiasis Ongoing 15 15 614162 2023-02-28
GHISID1 Growth hormone insensitivity with immune dysregulation 1 growth hormone insensitivity syndrome with immune dysregulation STAT5B AR Loss of Function 2003 2.9. Other defects No 0 0 245590 100210 2023-05-17
IMD10 Immunodeficiency 10 STIM1 deficiency STIM1 AR 2009 2.8. Calcium Channel Defects No 0 0 612783 2023-12-12
IBDIMDE Inflammatory bowel disease, immunodeficiency, and encephalopathy TGFB1 AR 2018 4.5. Immune Dysregulation with Colitis No 0 0 618213 2023-02-28
DKCA2 Dyskeratosis congenita, autosomal dominant 2 TERT AD 2005 9.1. Bone Marrow Failure syndromes No 0 0 613989 2023-02-28
DKCB4 Dyskeratosis congenita, autosomal recessive 4 TERT AR 2007 0.0. Confirmed absent in IUIS reports No 0 0 613989 2023-02-28
PFBMFT1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 1 pulmonary fibrosis and/or bone marrow failure, telomere-related TERT AD 2005 0.0. Confirmed absent in IUIS reports No 0 0 614742 148 2023-05-17
OPTB7 Osteopetrosis, autosomal recessive 7 TNFRSF11A AR 2008 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 612301 2023-02-28
5310 Immunoglobulin A deficiency 2 TACI deficiency TNFRSF13B AD/AR 2005 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Ongoing 0 0 609529 2023-02-28
CVID2 Immunodeficiency, common variable, 2 TACI deficiency TNFRSF13B AD/AR 2005 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Ongoing 33 25 240500 9413 2023-02-28
AGM9 Agammaglobulinemia 9 ZIP7 deficiency | SLC39A7 deficiency SLC39A7 AR Loss of Function 2019 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia Ongoing 1 1 619693 2023-02-28
CVID9 Immunodeficiency, common variable, 9 TWEAK deficiency | TNFSF12 deficiency TNFSF12 AD 2013 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 2023-02-28
AGM13 Agammaglobulinemia 13 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | TOP2B deficiency TOP2B AD 2019 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 609296 2023-02-28
IMD88 Immunodeficiency 88 T-bet deficiency | Mendelian Susceptibility to mycobacterial disease 16 | MSMD16 | TBX21 deficiency TBX21 AR Loss of Function 2020 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 619630 2023-02-28
ASA2 Asthma and nasal polyps Asthma, aspirin-induced, susceptibility to TBX21 AR 2005 0.0. Confirmed absent in IUIS reports No 0 0 208550
SCID9B Severe combined immunodeficiency 9B, T-B- RAG2 deficiency | T-B- SCID RAG2 AR 1996 1.2. T-B- Severe Combined Immune Deficiency Ongoing 14 14 601457 331206 31520 2023-05-17
HIGM4 INO80 deficiency hyper-IgM syndrome type 4 INO80 AR 2015 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM No 0 0 11864 2023-05-17
CVID15 Immunodeficiency, common variable, 15 Sec61a1 deficiency | PCD1 | translocon deficiency SEC61A1 AD Haploinsufficiency 2018 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Yes 13 2 620670 2024-01-14
SCN11 Severe congenital neutropenia 11 Congenital neutropenia, severe, 11 SEC61A1 AD Haploinsufficiency 2020 0.0. Confirmed absent in IUIS reports Yes 1 1 620674 2023-05-26
CVID20 Immunodeficiency, common variable, 20 Autosomal dominant BLK loss-of-function / haploinsufficiency BLK AD Haploinsufficiency 2015 0.0. Confirmed absent in IUIS reports Yes 2 1 2024-01-14
IMD94 Immunodeficiency 94 Immunodeficiency-94 with autoinflammation and dysmorphic facies IL6ST AD Gain of Function 2021 0.0. Confirmed absent in IUIS reports Yes 1 1 619750 30681 2023-03-22
MGCA7A 3-methylglutaconic aciduria, type VIIA 3-methylglutaconic aciduria type 7A CLPB AD 2021 5.1. Congenital Neutropenias Ongoing 0 0 619835 2023-02-28
SCN9 Severe congenital neutropenia 9 Neutropenia, severe congenital, 9, autosomal dominant CLPB AD 2022 0.0. Confirmed absent in IUIS reports Ongoing 0 0 619813 2023-02-28
IMD100 OAS1 immunodeficiency Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia OAS1 AD Gain of Function 2018 7.1. Type 1 Interferonopathies Yes 10 8 618042 572428 20840 2023-03-30
CVID22 Immunodeficiency, common variable, 22 ITPKB haploinsufficiency ITPKB AD Haploinsufficiency 2016 0.0. Confirmed absent in IUIS reports No 0 0 2023-07-13
AGM12 Agammaglobulinemia 12 p110-delta deficiency | deficiency of p110delta | PIK3CD deficiency | Immunodeficiency 14B PIK3CD AR Loss of Function 2018 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia Ongoing 0 0 619281 2023-07-26
AGM14 Agammaglobulinemia 14 Bob1 agammaglobulinemia POU2AF1 AR 2021 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Yes 1 1 2023-03-29
IMD81 Immunodeficiency 81 SLP76 deficiency LCP2 AR Loss of Function 2021 1.1. T-B+ Severe Combined Immune Deficiency No 0 0 619374 2023-02-28
CID37 Combined immunodeficiency 37 MAN2B2 deficiency MAN2B2 AR Loss of Function 2020 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 1 1 2023-02-28
CID38 Combined immunodeficiency 38 COPG1 deficiency | Immunodeficiency 128 | IMD128 COPG1 AR Loss of Function 2021 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620983 2024-10-20
22q11DS DiGeorge syndrome 22q11.2 deletion syndrome TBX1 AD 2003 2.3. Thymic Defects with Additional Congenital Anomalies Ongoing 2 2 188400 567 2023-02-28
HIES4A Hyper-IgE recurrent infection syndrome 4A IL6 signal transducer (partial) deficiency IL6ST AD Negative Dominance 2020 2.5. Hyper IgE Syndromes (HIES) Yes 22 12 619752 800131 2023-04-01
APRILD APRIL deficiency Autosomal recessive TNFSF13 loss-of-function TNFSF13 AR Loss of Function 2020 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM Yes 1 1 2023-10-22
CID40 Combined immunodeficiency 40 IKK-alfa deficiency CHUK AR Loss of Function 2021 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 2023-02-28
IMD80 Immunodeficiency 80 MCM10 deficiency | Immunodeficiency 80 with or without cardiomyopathy MCM10 AR 2020 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 619313 2023-02-28
CRACR2AD CRACR2A deficiency CRACR2A AR 2021 2.8. Calcium Channel Defects No 0 0 2023-02-28
IMD84 Immunodeficiency 84 AIOLOS deficiency IKZF3 AD Negative Dominance 2021 2.9. Other defects Ongoing 8 7 619437 2023-02-28
IMD123 Immunodeficiency 123 with HPV-related verrucosis CD28 deficiency CD28 AR Loss of Function 2021 2.9. Other defects No 0 0 620801 2024-08-01
IMD98 Immunodeficiency 98 with autoinflammation TLR8-GOF | TLR8 gain of function TLR8 XLR Gain of Function 2021 6.7. TLR Signaling Pathway Deficiency Yes 3 2 301078 24777 2023-03-31
JAK1D JAK1 deficiency JAK1-LOF | JAK1 loss-of-function JAK1 AR Loss of Function 2016 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) Yes 1 1 2023-08-17
IMD99 Immunodeficiency 99 CTNNBL1 deficiency | Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias CTNNBL1 AR Loss of Function 2020 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM Yes 1 1 619846 30798 2023-10-23
AGM15 Agammaglobulinemia 15 FNIP1 deficiency | Immunodeficiency 93 and hypertrophic cardiomyopathy | IMD93 FNIP1 AR 2020 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 619705 2023-02-28
FHL6 Hemophagocytic lymphohistiocytosis, familial, 6 FAAP24 deficiency | familial Hemophagocytic lymphohistiocytosis 2 FAAP24 AR 2016 4.1. Familial Hemophagocytic Lymphohistiocytosis No 0 0 2023-02-28
FHL8 Hemophagocytic lymphohistiocytosis, familial, 8 RHOG deficiency | familial Hemophagocytic lymphohistiocytosis 8 RHOG AR 2021 4.1. Familial Hemophagocytic Lymphohistiocytosis No 0 0 2023-02-28
SGD1 Specific granule deficiency Recurrent infection due to specific granule deficiency CEBPE AD/AR Loss of Function 1999 5.1. Congenital Neutropenias No 0 0 245480 169142 9506 2023-05-17
CID35 Combined immunodeficiency 35 ITPKB deficiency ITPKB AR Loss of Function 2020 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 2023-07-13
CID36 Combined immunodeficiency 36 Immunodeficiency 102 | IMD102 | SASH3 deficiency SASH3 XL Loss of Function 2021 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 3 3 301082 2023-09-19
CID39 Combined immunodeficiency 39 HELIOS deficiency IKZF2 AD/AR Loss of Function 2021 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 1 1 2023-02-28
SCBMS Seizures, cortical blindness, microcephaly syndrome DIAPH1 deficiency | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome DIAPH1 AR Loss of Function 2015 2.9. Other defects Yes 16 9 616632 477814 14714 2023-03-31
IMD97 Immunodeficiency 97 Immunodeficiency, common variable, 23 | CVID23 | Immunodeficiency 97 with autoinflammation | PIK3CG deficiency PIK3CG AR Loss of Function 2019 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype Yes 2 2 619802 30717 2023-03-31
IKRS-GOF IKAROS gain of function IKAROS GOF IKZF1 AD Gain of Function 2022 4.3. Regulatory T Cell Defects Ongoing 0 0 2023-02-28
AISIMD Autoinflammatory syndrome, familial, with or without immunodeficiency SOCS1 haploinsufficiency SOCS1 AD 2020 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 619375 2023-02-28
CAIN CEBPE-Autoinflammation-immunodeficiency-neutrophil dysfunction syndrome CEBPE neofunction | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | Immunodeficiency 108 with autoinflammation CEBPE AR Gain of Function 2019 4.2. FHL Syndromes with Hypopigmentation No 0 0 260570 566067 2023-02-28
AIEOTB Autoimmunity and early-onset tuberculosis PD-1 deficiency | early-onset tuberculosis and autoimmunity | autoimmune disease with susceptibility to mycobacterium tuberculosis | AIMTBS PDCD1 AR 2021 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 621004 2023-02-28
AIFBL2 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 ELF4 deficiency ELF4 XLR 2021 4.5. Immune Dysregulation with Colitis No 0 0 301074 2023-02-28
IMD75 Immunodeficiency 75 TET2 deficiency TET2 AR 2020 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 619126 2023-02-28
WHIMS2 WHIM syndrome 2 CXCR2 deficiency CXCR2 AR 2014 5.1. Congenital Neutropenias No 0 0 619407 2023-02-28
IBD33 Inflammatory bowel disease 33 ALPI deficiency ALPI AR 2018 7.3. Non-Inflammasome Related Conditions No 0 0 2023-02-28
C4AD C4a deficiency C4 deficiency C4A AR 1993 8.1. Complement Deficiency syndromes No 0 0 614380 2023-02-28
C8GD C8g deficiency C8-gamma deficiency C8G AR 8.1. Complement Deficiency syndromes No 0 0 2023-02-28
IIAE11 Susceptibility to acute infection-induced encephalopathy type 11 DBR1 deficiency | susceptibility to acute infection (viral)-induced encephalitis-11 DBR1 AR 2018 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 619441 2023-02-28
IMD87 Immunodeficiency 87 DEF6 deficiency | Immunodeficiency 87 and autoimmunity DEF6 AR 2019 4.3. Regulatory T Cell Defects Ongoing 19 3 619573 2023-02-28
BMFS3b Bone marrow failure syndrome 3b Shwachman-Diamond Syndrome DNAJC21 AR 2016 5.1. Congenital Neutropenias No 0 0 617052 2023-02-28
HIES6 Hyper-IgE recurrent infection syndrome 6 ERBIN deficiency | ERBB2IP ERBIN AR 2017 2.5. Hyper IgE Syndromes (HIES) No 0 0 2023-02-28
IMD76 Immunodeficiency 76 FCHO1 deficiency PAX1 FCHO1 AR 2019 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 619164 2023-02-28
AIPCS Autoinflammatory-pancytopenia syndrome DNAse II deficiency DNASE2 AR 2017 7.1. Type 1 Interferonopathies No 0 0 619858 2023-02-28
AgPS Susceptibility to aggresive periodontitis Localized juvenile periodontitis FPR1 AR 2007 5.2. Defects of Motility No 0 0 2023-02-28
CID4 Combined immunodeficiency 4 Immunodeficiency 119 | ICOSL deficiency | ICOSLG deficiency ICOSLG AR 2018 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620825 2024-06-04
IMD106 Immunodeficiency 106 IFNAR1 deficiency | Immunodeficiency 106, susceptibility to viral infections IFNAR1 AR 2019 6.3. Predisposition to Severe Viral Infection No 0 0 619935 2023-02-28
MSMD2 Mendelian Susceptibility to mycobacterial disease 2 IL12RB2 deficiency | IL-12R-beta-2 deficiency IL12RB2 AR Loss of Function 2018 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 2023-02-28
MSMD4 Mendelian Susceptibility to mycobacterial disease 4 IL-23R deficiency IL23R AR Loss of Function 2018 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 2023-02-28
MSMD17 Mendelian Susceptibility to mycobacterial disease 17 Immunodeficiency 69, mycobacteriosis | IMD69 IFNG AR 2020 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 618963 2023-02-28
IRAK1D IRAK1 deficiency bacterial susceptibility IRAK1 XL 2017 6.7. TLR Signaling Pathway Deficiency No 1 1 2023-02-28
IMD96 Immunodeficiency 96 Ligase I deficiency LIG1 AR 1992 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 619774 2023-02-28
BMFS4 Bone marrow failure syndrome 4 MYSM1 deficiency MYSM1 AR 2013 2.4. Immuno-osseous Dysplasias No 0 0 618116 2023-02-28
IBD34 Inflammatory bowel disease 34 NFAT5 haploinsufficiency NFAT5 AD 2015 4.5. Immune Dysregulation with Colitis No 0 0 2023-02-28
CID14B Combined immunodeficiency 14B Polymerase delta deficiency POLD2 AR 2019 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 1 1 2023-02-28
CID14A Combined immunodeficiency 14A Immunodeficiency 120 | IMD120 | Polymerase delta deficiency | POLD1 deficiency POLD1 AR 2019 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620836 2024-06-04
POLE2D Polymerase ? subunit 2 deficiency POLE2 deficiency POLE2 AR 2016 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 2023-02-28
IMD101C Immunodeficiency 101C RNA polymerase III deficiency POLR3C AD 2017 6.3. Predisposition to Severe Viral Infection No 0 0 2023-02-28
IMD101F Immunodeficiency 101F RNA polymerase III deficiency | Immunodeficiency 101 (varicella zoster virus-specific) POLR3F AD 2018 6.3. Predisposition to Severe Viral Infection No 0 0 619872 2023-02-28
IMD101A Immunodeficiency 101A RNA polymerase III deficiency | Immunodeficiency 101 (varicella zoster virus-specific) POLR3A AD 2017 6.3. Predisposition to Severe Viral Infection No 0 0 2023-02-28
ACNINV3 Acne inversa, familial, 3 Hidradenitis suppurative with cutaneous hyperpigmentation PSEN1 AD 2010 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 613737 2023-02-28
PRAAS4 Proteasome-associated autoinflammatory syndrome 4 CANDLE PSMG2 AR 2019 7.3. Non-Inflammasome Related Conditions No 0 0 619183 2023-02-28
IMD92 Immunodeficiency 92 Rel deficiency REL AR 2019 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 619652 2023-02-28
IMD115 Immunodeficiency 115 with autoinflammation HOIP deficiency RNF31 AR 2015 2.9. Other defects No 0 0 620632 2023-11-29
MSMD10 Mendelian susceptibility to mycobacterial disease 10 Immunodeficiency 86, mycobacteriosis | SPPL2A deficiency SPPL2A AR 2018 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 619549 2023-02-28
TIRAPD TIRAP deficiency TIRAP AR 2017 6.7. TLR Signaling Pathway Deficiency No 0 0 2023-02-28
IMD109 Immunodeficiency 109 with lymphoproliferation CD137 deficiency | 41BB TNFRSF9 AR Loss of Function 2019 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 620282 2023-06-19
IMD78 Immunodeficiency 78 Tripeptidyl-Peptidase II Deficiency | Immunodeficiency 78 with autoimmunity and developmental delay TPP2 AR 2014 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 619220 2023-02-28
IBD32 Inflammatory bowel disease 32 TRIM22 deficiency TRIM22 AR 2016 7.3. Non-Inflammasome Related Conditions No 0 0 2023-02-28
PFITS Periodic fever, immunodeficiency, and thrombocytopenia syndrome WDR1 deficiency WDR1 AR 2016 5.2. Defects of Motility No 0 0 150550 2023-02-28
NOS2D NOS2 deficiency NOS2 AR 2020 6.3. Predisposition to Severe Viral Infection No 0 0 2023-02-28
IMD91 Immunodeficiency 91 and hyperinflammation ZNFX1 deficiency ZNFX1 AR 2021 6.3. Predisposition to Severe Viral Infection Ongoing 4 3 619644 2023-04-28
IIAE10 Susceptibility to acute infection-induced encephalopathy type 10 SNORA31 deficiency SNORA31 AD 2019 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 619396 2023-02-28
5793 ATG4A deficiency ATG4A AD 2020 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 2023-02-28
HSV2M HSV2 meningitis MAP1LC3B2 deficiency MAP1LC3B2 AD 2020 6.4. Herpes Simplex Encephalitis (HSE) No 0 0 2024-02-21
CANDF10 JNK1 haploinsufficiency chronic mucocutaneous candidiasis 10 MAPK8 AD Haploinsufficiency 2019 6.6. Predisposition to Mucocutaneous Candidiasis No 0 0 2023-02-28
AGS8 Aicardi-Goutieres syndrome 8 LSM11 deficiency LSM11 AR 2020 7.1. Type 1 Interferonopathies No 0 0 619486 2023-02-28
AGS9 Aicardi-Goutieres syndrome 9 RNU7-1 deficiency RNU7-1 AR 2020 7.1. Type 1 Interferonopathies No 0 0 619487 2023-02-28
COXPD53 Combined oxidative phosphorylation deficiency 53 C2orf69 deficiency C2orf69 AR 2021 7.3. Non-Inflammasome Related Conditions No 0 0 619423 2023-02-28
IMD82 Immunodeficiency 82 with systemic inflammation SYK-GOF SYK AD Gain of Function 2021 7.3. Non-Inflammasome Related Conditions Yes 6 5 619381 30308 2023-10-23
EOPCV Early-onset pulmonary and cutaneous vasculitis HCK GOF | HCK-GOF HCK AD Gain of Function 2022 7.3. Non-Inflammasome Related Conditions Ongoing 2 2 2023-12-02
PRAAS6 Proteasome-associated autoinflammatory syndrome 6 PSMB9 GOF PSMB9 AD Gain of Function 2021 7.3. Non-Inflammasome Related Conditions No 0 0 620796 2023-02-28
PRAAS3B Proteasome-associated autoinflammatory syndrome 3b Proteasome-associated autoinflammatory syndrome 3, digenic PSMB9 AR 2015 7.3. Non-Inflammasome Related Conditions No 0 0 617591 2023-02-28
VEXAS VEXAS syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic, syndrome UBA1 So Loss of Function 2020 10.1. Phenocopies of Inborn Errors of Immunity No 0 0 301054 2023-02-28
CLPD-NK2 Chronic lymphoproliferative disorder of NK-cells 2 JAK3 AD Gain of Function 2020 0.0. Confirmed absent in IUIS reports Ongoing 0 0 2023-02-28
NKTCL1 NK/T-cell lymphomas 1 peripheral T-cell lymphomas STAT3 So Gain of Function 2013 0.0. Confirmed absent in IUIS reports Yes 9 9 512017 2023-04-24
IKRS-DN IKAROS deficiency IKAROS DN IKZF1 AD Negative Dominance 2018 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 0 0 2023-02-28
SAIDX X-linked systemic autoinflammatory disease IKBKG XL 2020 7.3. Non-Inflammasome Related Conditions No 0 0 301081 2023-02-28
TIDTA T-cell immunodeficiency with thymic aplasia Nezelof syndrome FOXN1 AR Loss of Function 2019 0.0. Confirmed absent in IUIS reports Yes 3 3 242700 83471 2023-04-01
PRAAS5 Proteasome-associated autoinflammatory syndrome-5 CANDLE PSMB10 AR Loss of Function 2020 0.0. Confirmed absent in IUIS reports No 0 0 619175 2024-11-09
HES STAT5b-associated hypereosinophilic syndrome Hypereosinophilic syndrome due to somatic mutations in STAT5b STAT5B So Gain of Function 2017 10.1. Phenocopies of Inborn Errors of Immunity No 0 0 2023-02-28
sALPS Somatic ALPS type IA sALPSIA | ALPS–SFAS FAS So Loss of Function 2004 10.1. Phenocopies of Inborn Errors of Immunity No 0 0 2023-02-28
IMD95 Immunodeficiency 95 IFIH1-LOF | MDA5 deficiency | MDA5D IFIH1 AR Loss of Function 2017 6.3. Predisposition to Severe Viral Infection No 0 0 619773 2023-02-28
TBK1D Autoinflammation due to TBK1 deficiency Autoinflammation with arthritis and vasculitis TBK1 AR 2021 7.3. Non-Inflammasome Related Conditions No 0 0 620880 2023-05-25
CPP Cryopyrinopathy Muckle-Wells/CINCA/NOMID-like syndrome NLRP3 So Gain of Function 10.1. Phenocopies of Inborn Errors of Immunity No 0 0 2023-02-28
RALD1 RAS-associated autoimmune leukoproliferative disease 1 KRAS So Gain of Function 2010 10.1. Phenocopies of Inborn Errors of Immunity No 0 0 614470 2023-02-28
HNPH Hereditary neutrophilia CSF3R AD 2009 0.0. Confirmed absent in IUIS reports No 0 0 162830 2023-02-28
IL10D Il-10 deficiency IL10 AR Loss of Function 2010 4.5. Immune Dysregulation with Colitis No 0 0 2023-02-28
IMD98s Immunodeficiency 98 with autoinflammation, somatic TLR8-GOF | TLR8 gain of function TLR8 So Gain of Function 2021 10.1. Phenocopies of Inborn Errors of Immunity Yes 5 5 301078 2023-03-31
IRF4-HI IRF4 haploinsufficiency Whipple’s disease | pathogen-specific IRF4 immunodeficiency IRF4 AD Haploinsufficiency 2018 6.9. Other Inborn Errors of Immunity Related to Leukocytes Ongoing 0 0 2024-10-25
IMD107 Immunodeficiency 107 Otulin haploinsufficiency | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infections OTULIN AD Haploinsufficiency 2022 7.3. Non-Inflammasome Related Conditions Yes 17 11 619986 2023-12-01
ROSAH ROSAH syndrome retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome ALPK1 AD Gain of Function 2019 7.3. Non-Inflammasome Related Conditions No 0 0 614979 2024-07-29
IBD10 Inflammatory bowel disease 10, susceptibility to Inflammatory bowel disease (Crohn disease) 10 ATG16L1 AD/AR 2007 0.0. Confirmed absent in IUIS reports No 0 0 611081 2023-02-28
IBD30 Inflammatory bowel disease 30 Inflammatory bowel disease (Crohn disease) 30 CARD8 AD 2018 0.0. Confirmed absent in IUIS reports No 0 0 609051 2023-02-28
IBD31 Inflammatory bowel disease 31 Inflammatory bowel disease (infantile ulcerative colitis) 31 IL37 AR 2021 0.0. Confirmed absent in IUIS reports No 0 0 619398 2023-02-28
CVID23 Immunodeficiency, common variable, 23 Vav1 haploinsufficiency VAV1 AD 2012 0.0. Confirmed absent in IUIS reports No 0 0 2023-02-28
5852 Trypanosomiasis APOL1 AD 6.8. Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues No 0 0 2023-02-28
SAVI2 STING-associated vasculopathy, infantile-onsent, 2 STING1 AR Gain of Function 2020 7.1. Type 1 Interferonopathies No 0 0 2023-02-28
FANCM Fanconi anemia type M FANCM AR 2005 9.1. Bone Marrow Failure syndromes No 0 0 2023-02-28
TBS1 Mycobacterium tuberculosis, susceptibility to, 1 susceptibility to TB CCL2 AD/AR 2005 0.0. Confirmed absent in IUIS reports No 0 0 607948 2023-02-28
SLES17 susceptibility to Systemic lupus erythematosus 17 Systemic lupus erythematosus, susceptibility to, 17 DNASE1 AD 2001 0.0. Confirmed absent in IUIS reports No 0 0 152700 2023-02-28
THC7 Thrombocytopenia 7 Thrombocytopenia, autosomal dominant, 7 IKZF5 AD 2019 0.0. Confirmed absent in IUIS reports No 0 0 619130 2023-02-28
TBS2 Mycobacterium tuberculosis, susceptibility to, 2 TLR2 AD/AR 2004 0.0. Confirmed absent in IUIS reports No 0 0 607948 2023-02-28
TBS3 Mycobacterium tuberculosis, susceptibility to, 3 SP110 AD/AR 2006 0.0. Confirmed absent in IUIS reports No 0 0 607948 2023-02-28
JBS Jacobsen syndrome ETS1 AD 2022 0.0. Confirmed absent in IUIS reports No 0 0 147791 2023-02-28
IIAE12 Susceptibility to acute infection-induced encephalopathy type 12 Susceptibility to Herpes Simplex Encephalitis GTF3A AR Loss of Function 2022 0.0. Confirmed absent in IUIS reports No 0 0 2023-02-28
ICF5 Immunodeficiency-centromeric instability-facial anomalies syndrome 5 UHRF1 AR 2023 0.0. Confirmed absent in IUIS reports No 0 0 2023-02-28
IMD79 Immunodeficiency 79 CD4 AR 2019 0.0. Confirmed absent in IUIS reports No 0 0 619238 2023-02-28
TBS4 Mycobacterium tuberculosis, susceptibility to, 4 CISH AD/AR 2010 0.0. Confirmed absent in IUIS reports No 0 0 607948 2023-02-28
TBS5 Mycobacterium tuberculosis, susceptibility to, 5 IFNGR1 AD/AR 1997 0.0. Confirmed absent in IUIS reports No 0 0 607948 2023-02-28
TBS6 Mycobacterium tuberculosis, susceptibility to, 6 CD209 AD/AR 2006 0.0. Confirmed absent in IUIS reports No 0 0 607948 2023-02-28
CICPP ?Chronic infections and chronic pelvic pain PIK3CG AD 2013 0.0. Confirmed absent in IUIS reports Yes 1 1 2023-03-31
GIDID2 Gastrointestinal defects and immunodeficiency syndrome 2 PI4KA-associated combined immunodeficiency PI4KA AR Loss of Function 2021 0.0. Confirmed absent in IUIS reports No 0 0 619708 2024-10-25
NKDN NK cell deficiency with neutropenia GINS4 deficiency GINS4 AR Loss of Function 2022 2.2. DNA Repair Defects Other Than Those Listed in 2.1 No 0 0 2023-04-04
IDSRS Immune dysregulation, skeletal anomalies and radiosensitivity syndrome LIG4 haploinsufficiency syndrome LIG4 AD Haploinsufficiency 2023 0.0. Confirmed absent in IUIS reports No 0 0 2023-08-25
IDCHADD Immunedysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay DN IKZF2 IKZF2 AD Negative Dominance 2023 2.1. Immunodeficiency with Congenital Thrombocytopenia Ongoing 0 0 2023-06-17
ADMIO3 infantile-onset multisystem autoimmune disease-3 CBL-B deficiency | Immune dysregulation with T-cell hyperproliferation CBLB AR Loss of Function 2022 4.4. Autoimmunity with or without Lymphoproliferation Yes 3 3 620430 2023-10-22
SLES11 Susceptibility to systemic lupus erythematosus 11 Systemic lupus erythematosus, susceptibility to, 11 STAT4 AD/AR 2007 0.0. Confirmed absent in IUIS reports No 0 0 612253 2023-02-28
IMD114 Immunodeficiency 114 Immunodeficiency due to defective folate transport | Immunodeficiency 114, folate-responsive SLC19A1 AR Loss of Function 2022 2.6. Defects of Vitamin B12 and Folate Metabolism Ongoing 4 2 620603 2024-10-26
IMD111 Immunodeficiency 111 with perturbed glycolysis CD8 T-cell immunodeficiency and perturbed glycolysis | NFATC1 deficiency NFATC1 AR Loss of Function 2023 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 2023-06-23
HBVS2 Susceptibility to Hepatitis B virus, 2 Hepatitis B virus, susceptibility to IFNAR2 AD/AR 2006 0.0. Confirmed absent in IUIS reports No 0 0 610424 2023-07-13
EZRD Ezrin immunodeficiency B-cell deficiency due to ezrin EZR AR Loss of Function 2023 0.0. Confirmed absent in IUIS reports Yes 1 1 2023-08-21
SAIVH Systemic early-onset autoinflammation, vasculitis and hepatopathy Autoinflammatory disease, systemic, with vasculitis | Cutaneous vasculitis and hepatopathy syndrome | Inflammatory vasculitis and liver fibrosis syndrome | LAVLI | SAIDV LYN AD Gain of Function 2014 7.3. Non-Inflammasome Related Conditions Yes 4 4 620376 2023-05-08
EOAI Early-onset atopic inflammation HIES6 | Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections | early-onset allergies | early-onset atopy | early-onset allergic disease | STAT6-GOF STAT6 AD Gain of Function 2022 2.5. Hyper IgE Syndromes (HIES) Yes 22 13 620532 2023-12-18
ADMIDX X-linked multisystem autoinflammatory disease with immune dysregulation X-linked autoimmunity- and autoinflammation-dominant actinopathy | DOCK11 deficiency | X-linked actinopathy and autoimmunity DOCK11 XLR Loss of Function 2023 4.5. Immune Dysregulation with Colitis Yes 12 11 301109 2024-12-31
SCID10A Severe combined immunodeficiency 10A, T-B+ RAG1 deficiency | T-B+ SCID RAG1 AR Loss of Function 0.0. Confirmed absent in IUIS reports Ongoing 1 1 2023-09-18
SCID10B Severe combined immunodeficiency 10B, T-B+ RAG2 deficiency | T-B+ SCID RAG2 AR Loss of Function 0.0. Confirmed absent in IUIS reports Ongoing 1 1 2023-09-18
NKID NK Cell Immunodeficiency PLCG2 Haploinsufficiency PLCG2 AD Haploinsufficiency 2023 0.0. Confirmed absent in IUIS reports No 0 0 2023-09-18
HATIS Hatipoglu immunodeficiency syndrome Immunodeficiency 111 | IMD111 DPP9 AR 2022 4.1. Familial Hemophagocytic Lymphohistiocytosis No 0 0 620331
SLES2 Susceptibility to Systemic lupus erythematosus 2 SLEB2 | Systemic lupus erythematosus, susceptibility to, 2 PDCD1 AD 2002 0.0. Confirmed absent in IUIS reports No 0 0 605218
EOIBD Early-onset inflammatory bowel disease TLR4 deficiency TLR4 AR Loss of Function 2023 6.7. TLR Signaling Pathway Deficiency No 0 0 2023-04-04
IMD110 Immunodeficiency 110 Immunodeficiency due to disrupted Calcium homeostasis ITPR3 AR Loss of Function 2022 2.8. Calcium Channel Defects No 0 0 2024-10-26
SEOSIA Severe early onset systemic inflammation and autoimmunity ARPC5 deficiency | immunodeficiency-113 with autoimmunity and autoinflammation | IMD113 | ARPC5 actinopathy ARPC5 AR Loss of Function 2023 0.0. Confirmed absent in IUIS reports Yes 4 3 620565 2023-11-17
PIDR PLCG1-associated immune dysregulation disease PLCG1 GOF disease PLCG1 AD Gain of Function 2023 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 2023-08-04
IDAIBM Immunodeficiency, autoimmunity, and risk of B cell malignancy TRAF3 haploinsufficiency TRAF3 AD Haploinsufficiency 2022 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 2023-09-18
SLES9 susceptibility to Systemic lupus erythematosus 9 Systemic lupus erythematosus, susceptibility to, 9 CR2 AD 2007 0.0. Confirmed absent in IUIS reports No 0 0 610927
AIPDS2 Autoinflammation, panniculitis, and dermatosis syndrome 2 DN-ORAS | ORAS2 | OTULIN-related autoinflammatory syndrome OTULIN AD Negative Dominance 2023 7.3. Non-Inflammasome Related Conditions Yes 3 3 621030 2023-12-01
CAGS Chopra-Amiel-Gordon syndrome ANKRD17 AD 2021 0.0. Confirmed absent in IUIS reports No 0 0 619504 2023-11-17
CVID24 CID/CVID-like JAK3 deficiency atypical JAK3 deficiency JAK3 AD Loss of Function 2015 0.0. Confirmed absent in IUIS reports Ongoing 0 0
SLES1 Susceptibility to Systemic lupus erythematosus 1 Systemic lupus erythematosus, susceptibility to, 1 TLR5 AD/AR 2005 0.0. Confirmed absent in IUIS reports No 0 0 601744
SLES10 susceptibility to Systemic lupus erythematosus 10 Systemic lupus erythematosus, susceptibility to, 10 IRF5 AD 2005 0.0. Confirmed absent in IUIS reports No 0 0 612251
SLES19 susceptibility to Systemic lupus erythematosus 19 Systemic lupus erythematosus susceptibility to, 18 CTLA4 AD 2004 0.0. Confirmed absent in IUIS reports Ongoing 0 0 152700
SLES18 susceptibility to Systemic lupus erythematosus 18 Systemic lupus erythematosus susceptibility to, 18 FCGR2B AD 2002 0.0. Confirmed absent in IUIS reports No 0 0 152700
LNS1 susceptibility to Lupus nephritis 1 Lupus nephritis, susceptibility to, 1 FCGR2A AD 1996 0.0. Confirmed absent in IUIS reports No 0 0 152700
SLES20 susceptibility to Systemic lupus erythematosus 20 Systemic lupus erythematosus susceptibility to, 20 PTPN22 AD 2004 0.0. Confirmed absent in IUIS reports No 0 0 152700
SLES22 susceptibility to Systemic lupus erythematosus 22 Systemic lupus erythematosus, susceptibility to, 22 BLK AD 2019 0.0. Confirmed absent in IUIS reports Yes 0 0 2023-10-23
IBD1 Inflammatory bowel disease 1 susceptibility to Inflammatory bowel disease 1 NOD2 AD 2001 0.0. Confirmed absent in IUIS reports No 0 0 266600 5265 2023-02-28
PFBMFT9 Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 NOP10 AD 2020 0.0. Confirmed absent in IUIS reports No 0 0 620400 2023-11-18
IMD122 Immunodeficiency 122 Severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment | SCIDNDHI | polymerase delta deficiency POLD3 AR Loss of Function 2023 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620869 2024-07-04
HLHLH Hemophagocytic lymphohistiocytosis-like hyperinflammation severe infancy-onset autoinflammation DPP9 AD 2023 0.0. Confirmed absent in IUIS reports No 0 0 2023-11-19
THC8 Thrombocytopenia 8, with dysmorphic features and developmental delay Thrombocytopenia 8 | thrombocytopenia-8 with dysmorphic features and developmental delay ACTB AD 1999 5.2. Defects of Motility No 0 0 620475 2024-07-28
MSMD18 Mendelian Susceptibility to mycobacterial disease 18 IMD118 | Immunodeficiency 118, mycobacteriosis MCTS1 XLR 2023 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) No 0 0 301115 2024-01-26
DDSDEH Developmental delay, sensoneurinal deafness, acute disseminated encephalomyelitis and hypogammaglobulinemia KARS1 deficiency KARS1 AR 2023 3.2. Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype No 0 0 2023-11-19
SCMF1 Syndromic congenital myelofibrosis 1 RBSN AR Loss of Function 2018 0.0. Confirmed absent in IUIS reports No 0 0
M7MLS1 Monosomy 7 myelodysplasia and leukemia syndrome 1 familial monosomy 7 syndrome SAMD9L AD 2018 0.0. Confirmed absent in IUIS reports No 0 0 252270 44645 2023-12-02
CHBL2 Chilblain lupus 2 SAMHD1 AD 2011 0.0. Confirmed absent in IUIS reports No 0 0 614415 2023-02-28
AGM8B Agammaglobulinemia 8B E47 deficiency | E47 transcription factor deficiency TCF3 AR 2017 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 616824 2023-02-28
ILDM Interstitial lung disease and mycobacteriosis inherited CCR2 deficiency | Polycystic lung disease | PCLUD CCR2 AR Loss of Function 2024 5.2. Defects of Motility No 0 0 219600 2023-12-29
SCN10 Severe congenital neutropenia 10 severe congenital neutropenia-10 SRP68 AR 2021 0.0. Confirmed absent in IUIS reports No 0 0 620534 2024-01-14
ALPSIC Autoimmune lymphoproliferative syndrome, type IC FAS AD Haploinsufficiency 4.6. Autoimmune Lymphoproliferative Syndrome (ALPS) No 0 0 601859 3261 2023-02-28
BCAHH Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome KMT2D AD 2020 0.0. Confirmed absent in IUIS reports No 0 0
HIGM2b Hyper-IgM syndrome type 2b Immunodeficiency with hyper-IgM, type 2b AICDA AD 2003 3.3. Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM Ongoing 0 0 2024-03-07
CID41 Combined immunodeficiency 41 NFkB1 deficiency NFKB1 AR Loss of Function 2021 0.0. Confirmed absent in IUIS reports Yes 1 1 2024-03-14
IMD84b Immunodeficiency 84b AIOLOS haploinsufficiency IKZF3 AD Haploinsufficiency 2024 0.0. Confirmed absent in IUIS reports Ongoing 0 0
4q24-DS 4q24 deletion syndrome syndromic NFKB1 haploinsufficiency NFKB1 AD Haploinsufficiency 2018 0.0. Confirmed absent in IUIS reports Yes 12 12 2024-01-18
SEBVI Susceptibility to severe EBV infections IL-27RA deficiency IL27RA AR Loss of Function 2024 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0
SCIDL1 SCID-like IKAROS HI SCID-like IKAROS haploinsufficiency | transient SCID by IKAROS haploinsufficiency IKZF1 AD Haploinsufficiency 2021 0.0. Confirmed absent in IUIS reports Ongoing 0 0 2023-02-28
BMFAIE Bone marrow failure with autoimmune enteropathy Diamond-Blackfan anemia-like with autoimmune enteropathy IKZF1 AD Gain of Function 2021 0.0. Confirmed absent in IUIS reports Ongoing 0 0 2023-02-28
HIES7 Hyper-IgE syndrome 7 OSMR AR 2022 0.0. Confirmed absent in IUIS reports No 0 0
JELANS Jeffries-Lakhani neurodevelopmental syndrome CRELD1 AR 2024 0.0. Confirmed absent in IUIS reports No 0 0 620771
IMD117 Immunodeficiency 117 IRF1 deficiency | Immunodeficiency 117, mycobacteriosis, autosomal recessive IRF1 AR 2023 6.1. Mendelian Susceptibility to mycobacterial disease (MSMD) Yes 2 2 620668 2024-05-27
AIFID Autoinflammation with episodic fever and immune dysregulation SHARPIN deficiency SHARPIN AR 2024 7.3. Non-Inflammasome Related Conditions Ongoing 2 2 620795 2024-04-26
EOTAI Early-onset TLR7-dependent autoimmunity early-onset systemic lupus erythematosus | UNC93B1 monogenic lupus UNC93B1 AD Gain of Function 2024 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 2024-05-04
SCID17 Severe combined immunodeficiency 17 severe combined immunodeficiency due to NUDCD3 deficiency | Ommen syndrome due to NUDCD3 deficiency NUDCD3 AR Loss of Function 2024 1.2. T-B- Severe Combined Immune Deficiency No 0 0 2024-06-13
SCID18 Severe combined immunodeficiency 18 PSMB10-associated Omenn Syndrome | Immunodeficiency 121 with autoinflammation | IMD121 PSMB10 AD 2024 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620807 2024-11-09
AIEFL2 Autoinflammation with episodic fever and lymphadenopathy 2 Autoinflammatory disease by T-cell death RIPK1 AR Gain of Function 2024 0.0. Confirmed absent in IUIS reports No 0 0 2024-07-24
iRHOM2D iRHOM2 deficiency environmentally directed immunodysregulatory disease RHBDF2 AR Loss of Function 2022 4.5. Immune Dysregulation with Colitis No 0 0 2024-10-27
IMD125 Immunodeficiency 125 FLT3L deficiency FLT3LG AR Loss of Function 2024 2.9. Other defects No 0 0 620926 2024-09-02
sAI-IgG4 Systemic autoimmunity with elevated IgG4 TNIP1-driven systemic autoimmune disease TNIP1 AD Loss of Function 2024 0.0. Confirmed absent in IUIS reports No 0 0 2025-01-18
AICZC Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia PSTPIP1 AD 2012 0.0. Confirmed absent in IUIS reports No 0 0 601979 2023-02-28
IMD126 Immunodeficiency 126 PTCRA deficiency PTCRA AR 2024 2.9. Other defects No 0 0 620931 2024-09-30
THCID1 Thrombocytopenia and immunodeficiency 1 RAP1B So Gain of Function 2024 0.0. Confirmed absent in IUIS reports No 0 0 2024-10-25
CID42 Combined immunodeficiency 42 Combined immunodeficiency due to IRF4 deficiency IRF4 AR Loss of Function 2018 0.0. Confirmed absent in IUIS reports Ongoing 0 0 2024-10-25
CID43 Combined immunodeficiency 43 multimorphic combined immunodeficiency IRF4 AD Multimorphism 2023 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID Ongoing 0 0 2024-10-25
PDIL Primordial dwarfism-immunodeficiency-lipodystrophy syndrome PRIM1 AR 2020 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 620005 2024-10-25
CID44 Combined immunodeficiency 44 FOXI3 Haploinsufficiency FOXI3 AD Haploinsufficiency 2022 1.3. Combined Immunodeficiency (CID), Generally Less Profound than SCID No 0 0 2024-10-25
PDL1D PD-L1 deficiency CD274 AR 2024 4.4. Autoimmunity with or without Lymphoproliferation No 0 0
HGSDA Hypogammaglobulinemia, neuropathy and autism PAX5 deficiency | hypogammaglobulinemia, sensorimotor deficits and ASD PAX5 AR 2022 3.1. Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia No 0 0 2024-10-26
SLE17 Systemic lupus erythematosus 17 TLR7-GOF | TLR7-associated monogenic lupus TLR7 XLD Gain of Function 2022 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 301080 2024-10-26
MPMOAI Myeloproliferation and multi-organ autoimmunity SH2B3 deficiency SH2B3 AR Loss of Function 2023 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 2024-10-27
NFAT1D NFAT1 deficiency NFATC2 AR Loss of Function 2022 4.4. Autoimmunity with or without Lymphoproliferation No 0 0 2024-10-27
IRE1DAI Autoimmunity due to IRE1? deficiency IRE1-alpha deficiency ERN1 AD Loss of Function 2024 4.5. Immune Dysregulation with Colitis No 0 0 2024-10-27
6552 Severe EBV susceptibility TNFSF9 deficiency | CD137L deficiency TNFSF9 AR 2022 4.7. Susceptibility to EBV and Lymphoproliferative Conditions No 0 0 2024-10-27
IDLPAV Immunodeficiency, lymphoproliferation, autoimmunity, and vasculitis GIMAP6 deficiency GIMAP6 AR 2022 4.2. FHL Syndromes with Hypopigmentation No 0 0 2024-10-27
SCN12 Severe congenital neutropenia 12 DBF4 Deficiency DBF4 AR 2023 5.1. Congenital Neutropenias No 0 0 2024-10-27
SCN13 Severe congenital neutropenia 13 SRP19 deficiency SRP19 AR 2023 5.1. Congenital Neutropenias No 0 0 2024-10-27
SCN14 Severe congenital neutropenia 14 SRPRA deficiency SRPRA AD 2023 5.1. Congenital Neutropenias No 0 0 2024-10-27
MIS-C1 Multisystemic inflammatory syndrome after COVID, 1 OAS1 AR Loss of Function 2023 6.3. Predisposition to Severe Viral Infection Yes 0 0
MIS-C2 Multisystemic inflammatory syndrome after COVID, 2 OAS2 AR Loss of Function 2023 6.3. Predisposition to Severe Viral Infection No 0 0
MIS-C3 Multisystemic inflammatory syndrome after COVID, 3 RNASEL AR Loss of Function 2023 6.3. Predisposition to Severe Viral Infection No 0 0
HSES3 Herpes simplex encephalitis, susceptibility to, 3 RIPK3 deficiency RIPK3 AR Loss of Function 2023 6.4. Herpes Simplex Encephalitis (HSE) No 0 0
HSES4 Herpes simplex encephalitis, susceptibility to, 4 GTF3A deficiency GTF3A AR Loss of Function 2022 6.4. Herpes Simplex Encephalitis (HSE) No 0 0
HSES5 Herpes simplex encephalitis, susceptibility to, 5 IKBKE deficiency IKBKE AD 2023 6.4. Herpes Simplex Encephalitis (HSE) No 0 0
MD2D MD2 deficiency LY96 AR Loss of Function 2023 6.7. TLR Signaling Pathway Deficiency No 0 0
DPMC Disabling pansclerotic morphea of childhood STAT4-GOF STAT4 AD Gain of Function 2023 7.1. Type 1 Interferonopathies No 0 0 620443
PMVKD Autoinflammation due to PMVK deficiency PMVK deficiency PMVK AR Loss of Function 2023 7.2. Defects Affecting the Inflammasome No 0 0
RELAIP RELA interferonopathy RELA AD Negative Dominance 2023 7.1. Type 1 Interferonopathies No 0 0 2024-11-05
DKC8 Dyskeratosis congenita, recessive 8 DCLRE1B AR 2022 9.1. Bone Marrow Failure syndromes No 0 0 620133 2024-11-05
BMFDMS Bone marrow failure and diabetes mellitus syndrome DUT AR 2017 9.1. Bone Marrow Failure syndromes No 0 0 620044 2024-11-05
T-LGLL1 T-cell LGL leukemia 1 STAT3-driven large granular lymphocytic leukemia STAT3 So Gain of Function 2012 0.0. Confirmed absent in IUIS reports Yes 112 112
CMODID Congenital multi-organ dysfunction with immune dysregulation GNAI2 AD 2024 0.0. Confirmed absent in IUIS reports No 0 0 2024-11-09
IHCA1 Inflammatory hepatocellular adenomas 1 IHCA type 1 STAT3 So Gain of Function 2011 0.0. Confirmed absent in IUIS reports Yes 6 6
XSLE X-linked systemic lupus erythematosus X-linked childhood-onset systemic lupus erythematosus SAT1 XLR Loss of Function 2022 0.0. Confirmed absent in IUIS reports No 0 0 2024-12-21
DDADA2 Dominant deficiency of adenosine deaminase 2 ADA2 AD Negative Dominance 2024 0.0. Confirmed absent in IUIS reports Ongoing 0 0
6579 T-cell abnormalities due to LCK-GOF LCK AD Gain of Function 2024 0.0. Confirmed absent in IUIS reports Ongoing 0 0 2024-11-09
CLPD-NK1 Chronic lymphoproliferative disorder of NK-cells 1 STAT3 So Gain of Function 2012 0.0. Confirmed absent in IUIS reports Yes 18 18
MTDPS21 Mitochondrial DNA depletion syndrome 21 GUK1 AR Loss of Function 2024 0.0. Confirmed absent in IUIS reports No 0 0 621071

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Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. GenIA, the Genetic Immunology Advisor database for inborn errors of immunity. J Allergy Clin Immunol. 2024 Mar;153(3):831-843. doi: 10.1016/j.jaci.2023.11.022. Epub 2023 Nov 30. PMID: 38040041.