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Article

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.

Nature genetics - 1 Nov 1998

Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez J C, Hochstrasser D F, Mach B, Reith W

Abstract excerpt

Major histocompatibility class II (MHC-II) molecules are transmembrane proteins that have a central role in development and control of the immune system. They are encoded by a multigene family and their expression is tightly regulated. MHC-II deficiency (OMIM 209920) is an autosomal recessive immunodeficiency syndrome resulting from defects in trans-acting factors essential for transcription of MHC-II genes....

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Source

Identifiers

PMID: 9806546
DOI: 10.1038/3081

Genes

CIITA

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.PMID 9806546Read ↗

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.Semantic proximity Read ↗

New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.Semantic proximity Read ↗

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.Semantic proximity Read ↗

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

Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.Semantic proximity Read ↗

Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics approach.Semantic proximity Read ↗

Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.Semantic proximity Read ↗

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).Semantic proximity Read ↗

Identification and characterization of novel human tissue-specific RFX transcription factorsSemantic proximity Read ↗

Characterization of the human RFX transcription factor family by regulatory and target gene analysisSemantic proximity Read ↗

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.Semantic proximity Read ↗

CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation.Semantic proximity Read ↗

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