Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 3/07/2006
Symbol BLS2D
Location 13q14
Name bare lymphocyte syndrome type II, complementation group D
Corresponding gene RFXAP
Main clinical features
  • extreme sensibility to bacterial, viral, fungal infections . usually beginning in the first year of life and ending in death with overwhelming infections often by the age of four years . major histocompatibility class II deficiency syndrome, severe congenital immunodeficiency
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name MHC-II transactivating regulatory factor (RFXAP)