RFXAPbase: Regulatory factor X-associated protein deficiency

Version 1.0 last updated 18 June, 2007 contains 7 public entries


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

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

Other IMT services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome - Database for genes and proteins of the Human Immune System
SH2base - Database for pathogenic SH2 domain mutations

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