- databases for immunodeficiency-causing mutations
 
 
 
Immunodeficiency Mutation Databases:
ADAbase
FF10Adenosine deaminase deficiency (ADA)
AICDAbase
FF17Non-X-linked hyper-IgM syndrome
AIREbase
FF72Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)
AK2base
reticular dysgenesis
AP3B1base
FF108Hermansky-Pudlak syndrome 2
BIRC4base
FF165X-linked lymphoproliferative syndrome
BLMbase
FF89Bloom syndrome
BLNKbase
FF24BLNK deficiency
BTKbase
FF22X-linked agammaglobulinemia (XLA)
C1QAbase
FF48C1q α polypeptide deficiency
C1QBbase
FF49C1q β polypeptide deficiency
C1QCbase
(previously known as C1QGbase)
FF50C1q γ-polypeptide deficiency
C1Sbase
FF52C1s deficiency
C2base
FF90C2 deficiency
C3base
FF61C3 deficiency
C5base
FF91C5 deficiency
C6base
FF10C6 deficiency
C7base
FF93C7 deficiency
C8Bbase
FF56C8B deficiency
C9base
FF94C9 deficiency
CARD9base
?Caspase recruitment domain family, member 9
CASP10base
FF109Autoimmune lymphoproliferative syndrome, type II
CASP8base
FF110Caspase 8 deficiency
CD19base
FF150CD19 deficiency
CD247base
FF149CD3ζ deficiency
CD3Dbase
FF111CD3δ deficiency
CD3Ebase
FF20CD3ε deficiency
CD3Gbase
FF21CD3γ deficiency
CD40base
(previously known as TNFRSF5base)
FF18CD40 deficiency
CD40Lbase
FF16X-linked Hyper-IgM syndrome (XHIM)
CD55base
(previously known as DAFbase)
FF102Decay-accelerating factor (CD55) deficiency
CD59base
FF103CD59 deficiency
CD79Abase
FF25Igα deficiency
CD79Bbase
FF159Igβ deficiency
CD8Abase
FF64CD8α deficiency
CEBPEbase
FF112Neutrophil-specific granule deficiency
CFDbase
(previously known as DFbase)
FF98Factor D deficiency
CFHbase
(previously known as HF1base)
FF101Factor H deficiency
CFIbase
(previously known as IFbase)
FF99Complement factor I deficiency
CFPbase
(previously known as PFCbase)
FF100Properdin deficiency
CIITAbase
(previously known as MHC2TAbase)
FF12MHCII transactivating protein deficiency
CTSCbase
FF154Papillon-Lefevre syndrome
CXCR4base
FF7WHIM syndrome
CYBAbase
FF39Autosomal recessive p22phox deficiency
CYBBbase
(previously known as X-CGDbase)
FF38X-linked chronic granulomatous disease (XCGD)
DCLRE1Cbase
FF5Artemis deficiency
DKC1base
FF113Hoyeraal-Hreidarsson syndrome
DNMT3Bbase
FF124ICF syndrome
ELA2base
FF86Cyclic neutropenia; Congenital neutropenia
FASLGbase
(previously known as TNFSF6base)
FF37Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B)
FCGR1Abase
FF132CD64 deficiency
FCGR3Abase
FF135Natural killer cell deficiency
FERMT3base
leukocyte adhesion deficiency syndrome-III
FOXN1base
(previously known as WHNbase)
FF128T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FOXP3base
FF78Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX
G6PC3base
severe congenital neutropenia
GFI1base
FF129Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA)
HAX1base
FF85Severe congenital neutropenia (Kostmann disease)
ICOSbase
FF116ICOS deficiency
IFNGR1base
FF44IFNγ1-receptor deficiency
IFNGR2base
FF45IFNγ2-receptor deficiency
IGHG2base
FF29IgG2 deficiency
IGHMbase
FF26μ heavy chain deficiency
IGLL1base
FF27λ5surrogate light-chain deficiency
IKBKGbase
FF19Nemo deficiency
IL12Bbase
FF46Interleukin-12 (IL12) p40 deficiency
IL12RB1base
FF47Interleukin-12 receptor β1 deficiency
IL2RAbase
FF63Interleukin-2 receptor α deficiency
IL7Rbase
FF106Interleukin-7 receptor α deficiency
IRAK4base
FF117IRAK4 deficiency
ITGB2base
FF42Leukocyte adhesion deficiency I (LAD-I)
JAK3base
FF9Jak3 deficiency
LIG1base
FF131DNA ligase I deficiency
LIG4base
FF118LIG4 syndrome
LRRC8Abase
FF151 Non-Bruton type autosomal dominant agammaglobulinemia
LYSTbase
(previously known as CHS1base)
FF79Chediak-Higashi syndrome
MAPBPIPbase
FF161Endosomal adaptor protein p14 deficiency
MASP2base
FF119MASP2 deficiency
MLPHbase
FF156Griscelli syndrome, type 3 (GS3)
MPObase
FF82Myeloperoxidase deficiency
MRE11Abase
FF120Ataxia-telangiectasia-like disorder (ATLD)
MYO5Abase
FF80Griscelli syndrome, type 1 (GS1)
NCF1base
FF40Autosomal recessive p47phox deficiency
NCF2base
FF41Autosomal recessive p67phox deficiency
NFKBIAbase
FF121Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
NHEJ1base
FF152Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR
NPbase
FF11PNP deficiency
NRASbase
FF162Autoimmune lymphoproliferative syndrome type IV
ORAI1base
(previously known as TMEM142Abase)
FF147Severe combined immunodeficiency
PRF1base
FF105Familial haemophagocytic lymphohistiocytosis, type II (FHL2)
PRKDCbase
severe combined immunodeficiency (DNA-PKc)
PTPRCbase
FF6CD45 deficiency
RAB27Abase
FF122Griscelli syndrome, type 2 (GS2)
RAC2base
FF123Neutrophil immunodeficiency syndrome
RAD50base
Nijmegen breakage syndrome-like syndrome
RAG1base
FF2RAG1 deficiency
RAG2base
FF3RAG2 deficiency
RASGRP2base
FF139Leukocyte adhesion deficiency III
RFX5base
FF13MHCII promoter X box regulatory factor 5 deficiency
RFXANKbase
FF15Ankyrin repeat containing regulatory factor X-associated protein deficiency
RFXAPbase
FF14Regulatory factor X-associated protein deficiency
RNF168base
Ataxia telangiectasia
SBDSbase
FF84Shwachman-Diamond syndrome
SERPING1base
FF97Hereditary angioedema
SH2D1Abase
FF73X-linked lymphoproliferative syndrome (XLP)
SLC35C1base
(previously known as FUCT1base)
FF43Leukocyte adhesion deficiency I I (LAD-II)
SMARCAL1base
FF148Schimke immuno-osseous dysplasia
SP110base
FF158Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI)
SPINK5base
FF133Netherton syndrome
STAT1base
FF70STAT1 deficiency
STAT2base
?STAT2 deficiency
STAT3base
FF167Hyper-IgE syndrome
STAT5Bbase
FF125Growth hormone insensitivity with immunodeficiency
STIM1base
stromal interaction molecule
STX11base
FF155Familial haemophagocytic lymphohistiocytosis 4
STXBP2base
Hemophagocytic lymphohistiocytosis
TAP1base
FF107TAP1 deficiency
TAP2base
FF60TAP2 deficiency
TAPBPbase
FF136Tapasin deficiency
TAZbase
FF134Barth syndrome
TCN2base
FF130Transcobalamin II deficiency
TLR3base
FF166Influenza-associated encephalopathy
TMC6base
(previously known as EVER1base)
FF114Epidermodysplasia verruciformis
TMC8base
(previously known as EVER2base)
FF115Epidermodysplasia verruciformis
TNFRSF13Bbase
FF153TACI deficiency
TYK2base
FF163TYK2 deficiency
UNC13Dbase
FF126Familial hemophagocytic lymphohistiocytosis 3
UNC93B1base
FF164UNC93B deficiency (Herpes simplex encephalitis)
UNGbase
FF127UNG deficiency
WASbase
FF71Wiskott-Aldrich syndrome (WAS)
ZAP70base
FF62ZAP70 deficiency


See also:

Immunodeficiency mutation databases maintained by others

Human Genome Variation Society (HGVS): Locus Specific Mutation Databases