Genes causing Immunodeficiencies

Combined B and T cell immunodeficiencies
T-B- Severe combined immunodeficiency (SCID)
Disease Fact file Gene Locus Links
Reticular dysgenesis 1
RAG1 deficiency 2 RAG1 11p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
RAG2 deficiency 3 RAG2 11p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Omenn syndrome 4 RAG1 11p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Artemis deficiency 5 DCLRE1C 10p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
T-B+ SCID
Disease Fact file Gene Locus Links
X-linked SCID(γc-chain deficiency) 8 IL2RG Xq13.1-q13.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
JAK3 deficiency 9 JAK3 19p13.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Interleukin 7 receptor deficiency 106 IL7R 5p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, LocusLink, euGenes, GDB, HomoloGene
CD45 deficiency 6 PTPRC 1q31-q32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
CD3delta deficiency 111 CD3D 11q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, LocusLink, euGenes, GDB, HomoloGene
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 128 FOXN1 17q11-q12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, EntrezGene, euGenes, GDB, HomoloGene
Deficiencies of purine metabolism
Disease Fact file Gene Locus Links
Adenosine deaminase deficiency 10 ADA 20q13.2-q13.11 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Purine nucleoside phosphorylase deficiency 11 NP 14q13.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Major histocompatibility complex class II deficiency
Disease Fact file Gene Locus Links
CIITA, MHCII transactivating protein deficiency 12 CIITA 16p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
RFX-5, MHCII promoter X box regulatory factor 5 deficiency 13 RFX5 1q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Regulatory factor X-associated protein deficiency 14 RFXAP 13q14 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency 15 RFXANK 19p12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Major histocompatibility complex class I deficiency
Disease Fact file Gene Locus Links
TAP2 deficiency 60 TAP2 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, EntrezGene, euGenes, GDB
TAP1 deficiency 107 TAP1 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Tapasin deficiency 136 TAPBP 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Hyper-IgM syndrome
Disease Fact file Gene Locus Links
X-linked hyper-IgM syndrome (CD40L deficiency) 16 TNFSF5 Xq26.3-q27.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
CD40 deficiency 18 CD40 20q12-q13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
CD3 deficiency
Disease Fact file Gene Locus Links
CD3ε deficiency 20 CD3E 11q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
CD3γ deficiency 21 CD3G 11q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
CD3Zeta deficiency 149 CD247 1q22-q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Other
Disease Fact file Gene Locus Links
ZAP-70 deficiency 62 ZAP70 2q12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
IL-2 receptor α-chain deficiency (CD25 deficiency) 63 IL2RA 10p15-p14 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
CD8α deficiency 64 CD8A 2p12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
p56 Lck deficiency 137 LCK 1p35-p34.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Schimke immuno-osseous dysplasia 148 SMARCAL1 2q34-q36 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Cernunnos deficiency 152 NHEJ1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
TMEM142 deficiency 147 ORAI1 12q24.31 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Deficiencies predominantly affecting antibody production
Agammaglobulinemia
Disease Fact file Gene Locus Links
X-linked agammaglobulinemia 22 BTK Xq21.3-q22 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
X-linked hypogammaglobulinemia with growth hormone deficiency 23
BLNK deficiency 24 BLNK 10q23.2-q23.33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Igα deficiency 25 CD79A 19q13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
μ heavy-chain deficiency 26 IGHM 14q32.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, IMGT
λ5 surrogate light-chain deficiency 27 IGLL1 22q11.22 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
Non-Bruton type autosomal dominant agammaglobulinemia 151 LRRC8A 9q34.13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Igβ deficiency 159 CD79B 17q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Light-chain deficiency
Disease Fact file Gene Locus Links
κ light-chain deficiency 65 IGKC 2p12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, IMGT
Selective deficiency of IgG subclass, IgE and/or IgA class or subclass
Disease Fact file Gene Locus Links
γ1 isotype deficiency 28 IGHG1 14q32.33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, IMGT
γ2 isotype deficiency 29 IGHG2 14q32.33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, IMGT
Partial γ3 isotype deficiency 30 IGHG3 14q32.33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
γ4 isotype deficiency 31 IGHG4 14q32.33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, IMGT
α1 isotype deficiency 32 IGHA1 14q32.33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, IMGT
α2 isotype deficiency 33 IGHA2 14q32.33 Ensembl, GENATLAS, GeneCard, Entrez Gene, euGenes, IMGT
ε isotype deficiency 34 IGHE 14q32.33 Ensemble, GENATLAS, GeneCard, Entrez Gene, euGenes, GDB
IgG subclass deficiency with or without IgA deficiency 35
IgA deficiency 67 IGAD1 6p21.3 GeneCard, Entrez Gene, euGenes, GDB
Common variable immunodeficiency
Disease Fact file Gene Locus Links
Common variable immunodeficiency of unknown origin 66 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, LocusLink, euGenes, GDB
ICOS deficiency 116 ICOS 2q33 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
TNFRSF13B deficiency 153 TNFRSF13B 17p11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Other antibody deficiencies
Disease Fact file Gene Locus Links
Antibody deficiency with normal immunoglobulin levels 68 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, LocusLink, euGenes, GDB
Transient hypogammaglobulinemia of infancy 69 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, LocusLink, euGenes, GDB
CD19 deficiency 150 CD19 16p11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Disease Fact file Gene Locus Links
AID deficiency 17 AICDA 12p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
UNG deficiency 127 UNG 17q11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Selective deficiency in Ig class-switch recombination 138
Defects in lymphocyte apoptosis
Autoimmune lymphoproliferative syndrome
Disease Fact file Gene Locus Links
Autoimmune lymphoproliferative syndrome, type Ia 36 TNFRSF6 10q23-q24.1 Ensembl, GENATLAS, GeneCard, Entrez Gene, euGenes, GDB
Autoimmune lymphoproliferative syndrome, type 1B 37 FASLG 1q23-q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Autoimmune lymphoproliferative syndrome type II 109 CASP10 2q33-q34 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Autoimmune lymphoproliferative syndrome type IIB 110 CASP8 2q33-q34 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
ALPS type III 162 NRAS 1p13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Other well-defined immunodeficiency syndromes
Wiskott-Aldrich syndrome and X-linked thrombocytopenia71 WAS Xp11.4-p11.21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Autoimmune disorders
Disease Fact file Gene Locus Links
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy 72 AIRE 21q22.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX) 78 FOXP3 Xp11.23-q13.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
X-linked lymphoproliferative disease (Duncan disease)73 SH2D1A Xq25-q26 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
DiGeorge-anomaly74 DGCR 22q11 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Hyper-IgE recurrent infection syndrome75 TYK2 19p13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene, Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Chronic mucocutaneous candidiasis76 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, LocusLink, euGenes, GDB
Cartilage-hair hypoplasia77 RMRP 9p21-p12 GENATLAS, GeneCard, Entrez Gene, euGenes
Epidermodysplasia verruciformis
Disease Fact file Gene Locus Links
Epidermodysplasia verruciformis type 1 114 TMC6 17q25 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, HomoloGene
Epidermodysplasia verruciformis type 2 115 TMC8 17q25 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
Netherton syndrome133 SPINK5 5q32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, HomoloGene
Natural killer deficiency135 FCGR3A 1q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Transcobalamin II deficiency130 TCN2 22q11.2-qter Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Osteopetrosis, AR157 TCIRG1 11q13.4-q13.5 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Hepatic veno-oclussive disease with immunodeficiency syndrome158 SP110 2q37.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Tyk2 deficiency163 TYK2 19p13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
X-linked lymphoproliferative syndrome 2165 BIRC4 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
STAT3 deficiency167 STAT3 17q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Defects of phagocyte function
Chronic granulomatous disease
Disease Fact file Gene Locus Links
X-linked chronic granulomatous disease 38 CYBB Xp21.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
p22phox deficiency 39 CYBA 16q24 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
p47phox deficiency 40 NCF1 7q11.23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
p67phox deficiency 41 NCF2 1q25 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
Leukocyte adhesion defects
Disease Fact file Gene Locus Links
Leukocyte adhesion deficiency I 42 ITGB2 21q22.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Leukocyte adhesion deficiency II 43 SLC35C1 11p11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
LAD3 deficiency 139 RASGRP2 11q13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
LAD with RAC2 deficiency 123 RAC2 22q12.3-q13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Chediak-Higashi syndrome79 LYST 1q42.1-q42.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Griscelli syndrome
Disease Fact file Gene Locus Links
Griscelli syndrome, type 1 80 MYO5A 15q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Griscelli syndrome, type 2 122 RAB27A 15q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Griscelli syndrome, type 3 156 MLPH 2q37 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Glucose 6-phosphate dehydrogenase deficiency81 G6PD Xq28 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Myeloperoxidase deficiency82 MPO 17q23.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Glycogen storage disease Ib83 G6PC 11q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Shwachman syndrome84 SBDS 7q11 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Neutropenia
Disease Fact file Gene Locus Links
Severe congenital neutropenias, including Kostmann syndrome 85 CSF3R 1p35-p34.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Cyclic neutropenia 86 ELA2 19p13.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
GFI1 deficiency 129 GFI1 1p22 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Familial haemophagocytic lymphohistiocytosis
Disease Fact file Gene Locus Links
Familial haemophagocytic lymphohistiocytosis type 1 104 9q21.3-q22
Familial haemophagocytic lymphohistiocytosis type 2 105 PRF1 10q22 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Familial hemophagocytic lymphohistiocytosis 3 126 UNC13D 17q25.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, HomoloGene
Familial haemophagocytic lymphohistiocytosis type 4 155 STX11 6q24 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenita113 DKC1 Xq28 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
CD64 deficiency132 FCGR1A 1q21.2-q21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Hermansky-Pudlak syndrome 2108 AP3B1 Chr.5 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Barth syndrome134 TAZ Xq28 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Neutrophil-specific granule deficiency112 CEBPE 14q11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Papillon-Lefevre syndrome154 CTSC 11q14.1-q14.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Disorders of pigmentation and immunodeficiency
Disease Fact file Gene Locus Links
p14 deficiency 161 MAPBPIP Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Defects of innate immune system, receptors and signaling components
Interferon-γ (IFNγ) receptor deficiency
Disease Fact file Gene Locus Links
IFNγ1-receptor deficiency 44 IFNGR1 6q23-24 Ensembl, GENATLAS, GeneCard, Entrez Gene, euGenes, GDB
IFNγ2-receptor deficiency 45 IFNGR2 21q22.1-q22.2 Ensembl, GENATLAS, GeneCard, Entrez Gene, euGenes, GDB
Interleukin-12 receptor β1 deficiency47 IL12RB1 19p13.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Interleukin-12 (IL-12) p40 deficiency46 IL12B 5q31.1-q33.1 Ensembl, GENATLAS, GeneCard, Entrez Gene, euGenes, GDB
STAT1 deficiency70 STAT1 2q32.2-q32.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
STAT5b deficiency125 STAT5B 17q11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
IRAK4 deficiency117 IRAK4 Chr.4 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency121 NFKBIA 14q13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
WHIM syndrome7 CXCR4 2q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)19 IKBKG Xq28 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
UNC93B deficiency164 UNC93B1 11q13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
TLR3 deficiency166 TLR3 4q35 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
DNA breakage associated syndromes and DNA epigenetic modification syndromes
DNA-breakage-associated syndromes
Disease Fact file Gene Locus Links
Ataxia-telengiectasia 87 ATM 11q22-q23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Nijmegen-breakage syndrome 88 NBS1 8q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Ataxia-telangiectasia-like disorder 120 MRE11A 11q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
DNA ligase deficiency
Disease Fact file Gene Locus Links
DNA ligase I deficiency 131 LIG1 19q13.2-q13.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
DNA ligase deficiency IV 118 LIG4 13q22-q34 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Bloom syndrome89 BLM 15q26.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)124 DNMT3B 20q11.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Defects of the classical complement cascade proteins
C1q deficiency
Disease Fact file Gene Locus Links
C1q α-polypeptide deficiency 48 C1QA 1p36.3-p34.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C1q β-polypeptide deficiency 49 C1QB 1p36.3-p34.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C1q γ-polypeptide deficiency 50 C1QC 1p36.3-p34.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C1r and C1s deficiency
Disease Fact file Gene Locus Links
C1r deficiency 51 C1R 12p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C1s deficiency 52 C1S 12p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C2 deficiency90 C2 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C3 deficiency61 C3 19p13.3-p13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C4 deficiency
Disease Fact file Gene Locus Links
C4A deficiency 53 C4A 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C4B deficiency 54 C4B 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C5 deficiency91 C5 9q32-q34 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C6 deficiency92 C6 5p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C7 deficiency93 C7 5p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C8 deficiency
Disease Fact file Gene Locus Links
C8 α-polypeptide deficiency 55 C8A 1p32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C8 β-polypeptide deficiency 56 C8B 1p32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C8 γ-polypeptide deficiency 57 C8G 9q34.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C9 deficiency94 C9 5p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Defects of the alternative complement pathway
Factor B deficiency95 BF 6p21.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Factor D deficiency98 CFD 19p13.3 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Factor H1 deficiency101 CFH 1q32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Properdin factor C deficiency100 CFP Xp11.3-p11.23 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Defects of complement regulatory proteins
Hereditary angioedema
Disease Fact file Gene Locus Links
Hereditary angioedema 97 SERPING1 11q12-q13.1 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
C4-binding protein deficiency
Disease Fact file Gene Locus Links
C4 binding protein α deficiency 58 C4BPA 1q32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
C4 binding protein β deficiency 59 C4BPB 1q32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes
Hereditary angioedema type III 160 F12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Decay-accelerating factor (CD55) deficiency102 CD55 1q32 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Factor I deficiency99 CFI 4q25 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
MAC inhibitor (CD59) deficiency103 CD59 11p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Mannose-binding lectin deficiency
Disease Fact file Gene Locus Links
Mannose-binding lectin deficiency 96 MBL2 10q11.2-q21 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB
Mannan-binding lectin - associated serine protease 2 deficiency 119 MASP2 1p36.3-p36.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Periodic fever syndromes
Familial mediterranean fever140 MEFV 16p13 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Hyperimmunoglobulinemia D with periodic fever syndrome141 MVK 12q24 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Tumor necrosis factor receptor-associated periodic syndrome142 TNFRSF1A 12p13.2 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Cold autoinflammatory syndrome
Disease Fact file Gene Locus Links
Familial cold urticaria and Muckle-Wells syndrome 143 CIAS1 1q44 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Chronic infantile neurological cutaneous and articular syndrome 144 CIAS1 1q44 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Granulomatous sinovitis with uveitis and cranial neuropathies145 CARD15 16q12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene
Crohn's disease146 CARD15 16q12 Ensembl, GENATLAS, GeneCard, UniGeneSOURCE, Entrez Gene, euGenes, GDB, HomoloGene