CIITA and Regulatory Factor X5 (RFX5) are two transcriptional activators identified in human patients with bare lymphocyte syndrome. They bind to "X boxes" in class II MHC gene promoters. X boxes are conserved among class II MHC genes in humans and mice. The X box sequence is 5'-GTNRCC(N 0-3 )RGYAAC-3' where N is any nucleotide, R is a purine, and Y is a pyrimidine. Patients with bare lymphocyte syndrome have no class I or class II MHC molecules due to a complete lack of transcription of class I and class II MHC genes. Both class I and class II MHC genes are flanked by 5’ promoter sequences, which are bound by specific transcription factors. Consequences of Bare Lymphocyte Syndrome are:an absence of cellular and humoral T cell immune responses.
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