Regulation of Genes for HLA Class II Antigens in Cell Lines from Patients with Severe Combined Immunodeficiency

Abstract

HLA Class ll–negative severe combined immunodeficiency (SCID) results from a congenital defect characterized by an absence of HLA Class II antigens. Patients with the disorder have no HLA-DR, DQ, or DP antigens or mRNAs in their peripheral-blood lymphocytes. The affected gene is a recessive, transacting regulatory gene that controls the expression of Class II genes. We studied the regulation of HLA Class II gene expression with the use of established Epstein–Barr virus-transformed B-cell lines and skin fibroblast lines from a group of patients with SCID.