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Immunodeficiency mutation databases >

Immunodeficiency mutation databases (IDbases)

ADAbase Adenosine deaminase deficiency IMT Bioinformatics Group, Tampere, Finland
AICDAbase Non-X-linked hyper-IgM syndrome IMT Bioinformatics Group, Tampere, Finland
AIREbase Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) IMT Bioinformatics Group, Tampere, Finland
ATbase Ataxia-Telangiectasia Karolinska Insitutet, Stockholm, Sweden
ATM Ataxia-Telangiectasia Virginia Mason Research Center, Seattle, USA
BLMbase Bloom syndrome IMT Bioinformatics Group, Tampere, Finland
BTKbase X-linked agammaglobulinemia (XLA) IMT Bioinformatics Group, Tampere, Finland
C1QAbase C1qA deficiency IMT Bioinformatics Group, Tampere, Finland
C1Sbase C1s deficiency IMT Bioinformatics Group, Tampere, Finland
C2base C2 deficiency IMT Bioinformatics Group, Tampere, Finland
C3base C2 deficiency IMT Bioinformatics Group, Tampere, Finland
C5base C5 deficiency IMT Bioinformatics Group, Tampere, Finland
C6base C6 deficiency IMT Bioinformatics Group, Tampere, Finland
C7base C7 deficiency IMT Bioinformatics Group, Tampere, Finland
C9base C9 deficiency IMT Bioinformatics Group, Tampere, Finland
CD3Ebase CD3epsilon deficiency IMT Bioinformatics Group, Tampere, Finland
CD3Gbase CD3gamma deficiency IMT Bioinformatics Group, Tampere, Finland
CD8Abase CD8 deficiency IMT Bioinformatics Group, Tampere, Finland
CD40Lbase X-linked Hyper-IgM syndrome (XHIM) IMT Bioinformatics Group, Tampere, Finland
CYBAbase Autosomal recessive p22 phox deficiency IMT Bioinformatics Group, Tampere, Finland
CYBBbase X-linked chronic granulomatous disease (XCGD) IMT Bioinformatics Group, Tampere, Finland
DNMT3Bbase ICF syndrome IMT Bioinformatics Group, Tampere, Finland
FAA and FAC Fanconi Anemia The Rockefeller University, New York, USA
FUCT1base Leucosyte adhesion deficiency I I (LAD-II)
IMT Bioinformatics Group, Tampere, Finland
IKBKGbase
Nemo deficiency
IMT Bioinformatics Group, Tampere, Finland
IL12RB1base
Interleukin-12 receptor ß1 deficiency IMT Bioinformatics Group, Tampere, Finland
IL2RGbase X-linked severe combined immunodeficiency (XSCID) The National Human Genome Research Institute, Bethesda, USA

ITGB2base

Leucosyte adhesion deficiency I (LAD-I)
IMT Bioinformatics Group, Tampere, Finland
JAK3base Jak3 deficiency IMT Bioinformatics Group, Tampere, Finland
NCF1base Autosomal recessive p47 phox deficiency IMT Bioinformatics Group, Tampere, Finland
NCF2base Autosomal recessive p67 phox deficiency IMT Bioinformatics Group, Tampere, Finland
NPbase
PNP deficiency
IMT Bioinformatics Group, Tampere, Finland
RAG1base RAG1 deficiency IMT Bioinformatics Group, Tampere, Finland
RAG2base RAG2 deficiency IMT Bioinformatics Group, Tampere, Finland
SH2D1Abase X-linked lymphoproliferative syndrome (XLP) IMT Bioinformatics Group, Tampere, Finland
STAT1base STAT1 deficiency
IMT Bioinformatics Group, Tampere, Finland
TNFRSF5base
CD40 deficiency
IMT Bioinformatics Group, Tampere, Finland
ZAP70base ZAP70 deficiency IMT Bioinformatics Group, Tampere, Finland

Last modified by Jouni Väliaho

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