RFX5base: MHCII promoter X box regulatory factor 5 deficiency

Version 1.0 last updated 18 June, 2007 contains 8 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the RFX5base :

Defects in RFX5 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) transmitted autosomal recessive. RFX5 is linked with BLS complementation groups C. 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: RFX5base