Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.

ABSTRACT: Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protract

SUBMITTER: Djidjik R 

PROVIDER: S-EPMC3511802 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature