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Article

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.

Immunogenetics - 1 Feb 2002

Dziembowska Magda, Fondaneche Marie-Claude, Vedrenne Jocelyn, Barbieri Giovanna, Wiszniewski Wojciech, Picard Capucine, Cant Andrew J, Steimle Viktor, Charron Dominique, Alca-Loridan Catherine, Fischer Alain, Lisowska-Grospierre Barbara

Abstract excerpt

Four transacting genes, CIITA, RFXANK, RFX5, and RFXAP, control coordinate MHC II expression. In humans, defects in these genes result in the absence of MHC II expression and thus a combined immunodeficiency. CIITA is considered to be a master MHC II regulator and is responsible for the defect in complementation group A. Eight such affected families have been reported. We investigated the molecular basis of the...

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Source

Identifiers

PMID: 11862382
DOI: 10.1007/s00251-001-0395-7

Genes

CIITA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.PMID 11862382Read ↗

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