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References OMIM Gene GeneReviews HGMD HGNC
last update : 3/07/2006
Symbol BLS2C
Location 1q21
Name Bare lymphocyte syndrome type II
Corresponding gene RFX5
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, complementation group C (severe congenital immunodeficiency) or complementation groupe E
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name MHC-II transactivating regulatory factor, component 5