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Molecular genetics of the Bare lymphocyte syndrome

Muhlethaler-Mottet, Annick
Peretti, M.
Published in Reviews in Immunogenetics. 2000, vol. 2, no. 2, p. 267-282
Abstract Major Histocompatibility Complex class II (MHC-II) molecules play a pivotal role in the adaptive immune system because they direct the development, activation and homeostasis of CD4+ T helper cells. Hereditary defects leading to the absence of MHC-II expression result in a severe autosomal recessive immunodeficiency disease called the Bare Lymphocyte Syndrome (BLS), also referred to as MHC-II deficiency. The genetic lesions responsible for BLS do not lie within the MHC-II locus itself, but reside instead in genes encoding transcription factors controlling MHC-II expression. Mutations in four different MHC-II regulatory genes are known to lead to BLS. These genes encode CIITA, RFXANK, RFX5 and RFXAP. CIITA (Class II Transactivator) is a transcriptional coactivator that functions as a master control factor dictating the cell type specificity, induction and level of MHC-II expression. RFXANK, RFX5 and RFXAP are the three subunits of RFX (regulatory factor X), a DNA-binding complex that binds to a conserved cis-acting sequence, the X box, present in the promoters of all MHC-II genes. Elucidation of the molecular defects underlying BLS has led to major advances in our understanding of the mechanisms regulating expression of MHC-II genes.
Keywords AnimalsDNA-Binding Proteins/geneticsGenes, MHC Class II/geneticsHistocompatibility Antigens Class II/geneticsHumansMiceMolecular BiologySevere Combined Immunodeficiency/ geneticsTranscription Factors/genetics
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PMID: 11258423
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