Novel Mutation in a Patient with MHC Class II Deficiency

Abstract

Major Histocompatibility Complex Class II molecules (MHCII) are required for CD4+ T-cell development, peripheral T-cell tolerance, and the initiation of cellular and humoral immune responses. Congenital immunodeficiency resulting from functional MHCII deficiency has been described from germ line mutations within trans regulatory elements controlling MHCII transcription. Here, we present a child with congenital MHCII deficiency arising from a novel mutation within the CIITA gene.