Filter conditions
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 |
Spread the word
Please help us if you use or download this data by citing our website and first paper:
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.