Immunodeficiency Mutation Databases: (131 databases available)
|
ADAbase | Adenosine deaminase deficiency (ADA) | Mauno Vihinen and Michael Hershfield | FF10 |
AICDAbase | Non-X-linked hyper-IgM syndrome | Mauno Vihinen and Anne Durandy | FF17 |
AIREbase | Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) | Mauno Vihinen | FF72 |
AK2base | reticular dysgenesis | Mauno Vihinen | |
AP3B1base | Hermansky-Pudlak syndrome 2 | Mauno Vihinen | FF108 |
BIRC4base | X-linked lymphoproliferative syndrome | Mauno Vihinen | FF165 |
BLMbase | Bloom syndrome | Mauno Vihinen | FF89 |
BLNKbase | BLNK deficiency | Mauno Vihinen | FF24 |
BTKbase | X-linked agammaglobulinemia (XLA) | Mauno Vihinen and C.I. Edvard Smith | FF22 |
C1QAbase | C1q α polypeptide deficiency | Mauno Vihinen | FF48 |
C1QBbase | C1q β polypeptide deficiency | Mauno Vihinen | FF49 |
C1QCbase | C1q γ-polypeptide deficiency | Mauno Vihinen | FF50 |
C1Sbase | C1s deficiency | Mauno Vihinen | FF52 |
C2base | C2 deficiency | Mauno Vihinen | FF90 |
C3base | C3 deficiency | Mauno Vihinen | FF61 |
C5base | C5 deficiency | Mauno Vihinen | FF91 |
C6base | C6 deficiency | Mauno Vihinen | FF10 |
C7base | C7 deficiency | Mauno Vihinen | FF93 |
C8Bbase | C8B deficiency | Mauno Vihinen | FF56 |
C9base | C9 deficiency | Mauno Vihinen | FF94 |
CARD9base | Caspase recruitment domain family, member 9 | Mauno Vihinen | ? |
CASP10base | Autoimmune lymphoproliferative syndrome, type II | Mauno Vihinen | FF109 |
CASP8base | Caspase 8 deficiency | Mauno Vihinen | FF110 |
CD19base | CD19 deficiency | Mauno Vihinen | FF150 |
CD247base | CD3ζ deficiency | Mauno Vihinen | FF149 |
CD3Dbase | CD3δ deficiency | Mauno Vihinen | FF111 |
CD3Ebase | CD3ε deficiency | Mauno Vihinen and Jose R. Regueiro | FF20 |
CD3Gbase | CD3γ deficiency | Mauno Vihinen and Jose R. Regueiro | FF21 |
CD40base | CD40 deficiency | Mauno Vihinen | FF18 |
CD40Lbase | X-linked Hyper-IgM syndrome (XHIM) | Mauno Vihinen and Luigi D. Notarangelo | FF16 |
CD55base | Decay-accelerating factor (CD55) deficiency | Mauno Vihinen | FF102 |
CD59base | CD59 deficiency | Mauno Vihinen | FF103 |
CD79Abase | Igα deficiency | Mauno Vihinen | FF25 |
CD79Bbase | Igβ deficiency | Mauno Vihinen | FF159 |
CD8Abase | CD8α deficiency | Mauno Vihinen | FF64 |
CEBPEbase | Neutrophil-specific granule deficiency | Mauno Vihinen | FF112 |
CFDbase | Factor D deficiency | Mauno Vihinen | FF98 |
CFHbase | Factor H deficiency | Mauno Vihinen | FF101 |
CFIbase | Complement factor I deficiency | Mauno Vihinen | FF99 |
CFPbase | Properdin deficiency | Mauno Vihinen | FF100 |
CIITAbase | MHCII transactivating protein deficiency | Mauno Vihinen | FF12 |
CTSCbase | Papillon-Lefevre syndrome | Mauno Vihinen | FF154 |
CXCR4base | WHIM syndrome | Mauno Vihinen | FF7 |
CYBAbase | Autosomal recessive p22phox deficiency | Mauno Vihinen and Dirk Roos | FF39 |
CYBBbase | X-linked chronic granulomatous disease (XCGD) | Mauno Vihinen and Dirk Roos | FF38 |
DCLRE1Cbase | Artemis deficiency | Mauno Vihinen | FF5 |
DKC1base | Hoyeraal-Hreidarsson syndrome | Mauno Vihinen | FF113 |
DNMT3Bbase | ICF syndrome | Mauno Vihinen | FF124 |
ELA2base | Cyclic neutropenia; Congenital neutropenia | Mauno Vihinen | FF86 |
FASLGbase | Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) | Mauno Vihinen | FF37 |
FCGR1Abase | CD64 deficiency | Mauno Vihinen | FF132 |
FCGR3Abase | Natural killer cell deficiency | Mauno Vihinen | FF135 |
FERMT3base | leukocyte adhesion deficiency syndrome-III | Mauno Vihinen | |
FOXN1base | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | Mauno Vihinen and Claudio Pignata | FF128 |
FOXP3base | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX | Mauno Vihinen | FF78 |
G6PC3base | severe congenital neutropenia | Mauno Vihinen | |
GFI1base | Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) | Mauno Vihinen | FF129 |
HAX1base | Severe congenital neutropenia (Kostmann disease) | Mauno Vihinen | FF85 |
ICOSbase | ICOS deficiency | Mauno Vihinen | FF116 |
IFNGR1base | IFNγ1-receptor deficiency | Mauno Vihinen | FF44 |
IFNGR2base | IFNγ2-receptor deficiency | Mauno Vihinen | FF45 |
IGHG2base | IgG2 deficiency | Mauno Vihinen | FF29 |
IGHMbase | μ heavy chain deficiency | Mauno Vihinen | FF26 |
IGLL1base | λ5surrogate light-chain deficiency | Mauno Vihinen | FF27 |
IKBKGbase | Nemo deficiency | Mauno Vihinen | FF19 |
IL12Bbase | Interleukin-12 (IL12) p40 deficiency | Mauno Vihinen | FF46 |
IL12RB1base | Interleukin-12 receptor β1 deficiency | Mauno Vihinen | FF47 |
IL2RAbase | Interleukin-2 receptor α deficiency | Mauno Vihinen | FF63 |
IL7Rbase | Interleukin-7 receptor α deficiency | Mauno Vihinen | FF106 |
IRAK4base | IRAK4 deficiency | Mauno Vihinen | FF117 |
ITGB2base | Leukocyte adhesion deficiency I (LAD-I) | Mauno Vihinen | FF42 |
JAK3base | Jak3 deficiency | Mauno Vihinen and Luigi D. Notarangelo | FF9 |
LIG1base | DNA ligase I deficiency | Mauno Vihinen | FF131 |
LIG4base | LIG4 syndrome | Mauno Vihinen | FF118 |
LRRC8Abase | Non-Bruton type autosomal dominant agammaglobulinemia | Mauno Vihinen | FF151 |
LYSTbase | Chediak-Higashi syndrome | Mauno Vihinen | FF79 |
MAPBPIPbase | Endosomal adaptor protein p14 deficiency | Mauno Vihinen | FF161 |
MASP2base | MASP2 deficiency | Mauno Vihinen | FF119 |
MLPHbase | Griscelli syndrome, type 3 (GS3) | Mauno Vihinen | FF156 |
MPObase | Myeloperoxidase deficiency | Mauno Vihinen | FF82 |
MRE11Abase | Ataxia-telangiectasia-like disorder (ATLD) | Mauno Vihinen | FF120 |
MYO5Abase | Griscelli syndrome, type 1 (GS1) | Mauno Vihinen | FF80 |
NCF1base | Autosomal recessive p47phox deficiency | Mauno Vihinen and Dirk Roos | FF40 |
NCF2base | Autosomal recessive p67phox deficiency | Mauno Vihinen and Dirk Roos | FF41 |
NFKBIAbase | Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency | Mauno Vihinen | FF121 |
NHEJ1base | Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR | Mauno Vihinen | FF152 |
NPbase | PNP deficiency | Mauno Vihinen | FF11 |
NRASbase | Autoimmune lymphoproliferative syndrome type IV | Mauno Vihinen | FF162 |
ORAI1base | Severe combined immunodeficiency | Mauno Vihinen | FF147 |
PRF1base | Familial haemophagocytic lymphohistiocytosis, type II (FHL2) | Mauno Vihinen | FF105 |
PRKDCbase | severe combined immunodeficiency (DNA-PKc) | Mauno Vihinen DNA-PKcs | |
PTPRCbase | CD45 deficiency | Mauno Vihinen | FF6 |
RAB27Abase | Griscelli syndrome, type 2 (GS2) | Mauno Vihinen | FF122 |
RAC2base | Neutrophil immunodeficiency syndrome | Mauno Vihinen | FF123 |
RAD50base | Nijmegen breakage syndrome-like syndrome | Mauno Vihinen | |
RAG1base | RAG1 deficiency | Mauno Vihinen and Anna Villa | FF2 |
RAG2base | RAG2 deficiency | Mauno Vihinen and Anna Villa | FF3 |
RASGRP2base | Leukocyte adhesion deficiency III | Mauno Vihinen | FF139 |
RFX5base | MHCII promoter X box regulatory factor 5 deficiency | Mauno Vihinen | FF13 |
RFXANKbase | Ankyrin repeat containing regulatory factor X-associated protein deficiency | Mauno Vihinen | FF15 |
RFXAPbase | Regulatory factor X-associated protein deficiency | Mauno Vihinen | FF14 |
RNF168base | Ataxia telangiectasia | Mauno Vihinen | |
SBDSbase | Shwachman-Diamond syndrome | Mauno Vihinen and Laszlo Marodi | FF84 |
SERPING1base | Hereditary angioedema | Mauno Vihinen | FF97 |
SH2D1Abase | X-linked lymphoproliferative syndrome (XLP) | Mauno Vihinen and Luigi D. Notarangelo | FF73 |
SLC35C1base | Leukocyte adhesion deficiency I I (LAD-II) | Mauno Vihinen | FF43 |
SMARCAL1base | Schimke immuno-osseous dysplasia | Mauno Vihinen | FF148 |
SP110base | Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) | Mauno Vihinen | FF158 |
SPINK5base | Netherton syndrome | Mauno Vihinen | FF133 |
STAT1base | STAT1 deficiency | Mauno Vihinen | FF70 |
STAT2base | STAT2 deficiency | Mauno Vihinen | ? |
STAT3base | Hyper-IgE syndrome | Mauno Vihinen | FF167 |
STAT5Bbase | Growth hormone insensitivity with immunodeficiency | Mauno Vihinen | FF125 |
STIM1base | stromal interaction molecule | Mauno Vihinen | |
STX11base | Familial haemophagocytic lymphohistiocytosis 4 | Mauno Vihinen | FF155 |
STXBP2base | Hemophagocytic lymphohistiocytosis | Mauno Vihinen | |
TAP1base | TAP1 deficiency | Mauno Vihinen | FF107 |
TAP2base | TAP2 deficiency | Mauno Vihinen | FF60 |
TAPBPbase | Tapasin deficiency | Mauno Vihinen | FF136 |
TAZbase | Barth syndrome | Mauno Vihinen | FF134 |
TCN2base | Transcobalamin II deficiency | Mauno Vihinen | FF130 |
TLR3base | Influenza-associated encephalopathy | Mauno Vihinen | FF166 |
TMC6base | Epidermodysplasia verruciformis | Mauno Vihinen | FF114 |
TMC8base | Epidermodysplasia verruciformis | Mauno Vihinen | FF115 |
TNFRSF13Bbase | TACI deficiency | Mauno Vihinen | FF153 |
TYK2base | TYK2 deficiency | Mauno Vihinen | FF163 |
UNC13Dbase | Familial hemophagocytic lymphohistiocytosis 3 | Mauno Vihinen | FF126 |
UNC93B1base | UNC93B deficiency (Herpes simplex encephalitis) | Mauno Vihinen | FF164 |
UNGbase | UNG deficiency | Mauno Vihinen and Anne Durandy | FF127 |
WASbase | Wiskott-Aldrich syndrome (WAS) | Mauno Vihinen | FF71 |
ZAP70base | ZAP70 deficiency | Mauno Vihinen | FF62 |
Immunodeficiency mutation databases maintained by others (27 databases available)
|
AP3B1 | Hermansky-Pudlak syndrome 2 | | FF108 |
ATM | Ataxia-telangiectasia | | FF87 |
CASP10 | Autoimmune lymphoproliferative syndrome, type II | | FF109 |
CFH | Haemolytic Uraemic Syndrome (HUS) | | FF101 |
CTSC | Papillon Lefevre syndrome | | FF154 |
FANCA | Fanconi anemia | | |
FANCB | Fanconi anemia | | |
FANCC | Fanconi anemia | | |
FANCD2 | Fanconi anemia | | |
FANCE | Fanconi anemia | | |
FANCF | Fanconi anemia | | |
FANCG | Fanconi anemia | | |
FANCL | Fanconi anemia | | |
FAS | Autoimmune lymphoproliferative syndrome, type Ia | | FF36 |
IL2RG | X-linked SCID | | FF8 |
LPIN2 | Majeed Syndrome | | |
LYST | Chediak-Higashi Syndrome | | FF79 |
MEFV | Familial Mediterranean fever | | FF140 |
MVK | Hyper IgD Syndrome and periodic fever | | FF141 |
NLRP3 | Familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous and articular syndrome | | FF143 |
NLRP7 | Recurrent Hydatidiform moles and reproductive wastage | | |
NOD2 | Blau syndrome, Chrohn's disease, Early Onset Sarcoidosis | | FF146 |
PSTPIP1 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome | | |
SERPING1 | Hereditary angioedema | | FF97 |
TAZ | Barth syndrome | | FF134 |
TNFRSF1A | Tumor necrosis factor receptor-associated periodic syndrome | | FF142 |
WAS | Wiskott-Aldrich syndrome | | FF71 |