基因名：
RFXANK
产品别名：
ANKRA1； BLS； F14150_1； RFX-B； RFXANK； regulatory factor X associated ankyrin containing protein； regulatory factor X associated ankyrin containing protein； DNA-binding protein RFXANK； RFX-Bdelta4； ankyrin repeat family A protein 1； ankyrin repeat-containing regulatory factor X-associated protein； regulatory factor X subunit B； 调节因子X相关锚蛋白RFXANK；
背景信息：
Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
