RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency

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.

Alternative names

MHC class II deficiency

Bare Lymphocyte Syndrome type II (BLS)

RFXANK (complementation group B)


  • Combined B and T cell immunodeficiencies
    • Major histocompatibility complex class II deficiency


Autosomal recessive


#209920 Bare lymphocyte syndrome, type II

603200 Regulatory factor X, ankyrin repeat-containing; RFXANK


Incidence is not known yet.