RFXANKbase: Ankyrin repeat containing regulatory factor X-associated protein deficiency

Version 1.0 last updated 16 June, 2011 contains 30 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the RFXANKbase :

Defects in RFXANK are a cause of hereditary MHC class II deficiency, also known as Bare Lymphocyte Syndrome (BLS) or HLA class II-deficient combined immunodeficiency); a form of Severe Combined Immunodeficiency disease (SCID). RFXANK is linked with BLS complementation group B. The disease is very rare, only approximately 70 patients from 57 unrelated families have been reported worldwide.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: RFXANKbase