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Article

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

Genes & development - 1 May 1995

Steimle V, Durand B, Barras E, Zufferey M, Hadam M R, Mach B, Reith W

Abstract excerpt

Regulation of MHC class II gene expression is an essential aspect of the control of the immune response. Primary MHC class II deficiency is a genetically heterogeneous disease of gene regulation that offers the unique opportunity of a genetic approach for the identification of the functionally relevant regulatory genes and factors. Most patients exhibit a characteristic defect in the binding of a nuclear complex,...

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Identifiers

PMID: 7744245
DOI: 10.1101/gad.9.9.1021

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).PMID 7744245Read ↗

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

Analysis of the defect in IFN-gamma induction of MHC class II genes in G1B cells: identification of a novel and functionally critical leucine-rich motif (62-LYLYLQL-68) in the regulatory factor X 5 transcription factor.Semantic proximity Read ↗

Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX.Semantic proximity Read ↗

Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complexSemantic proximity Read ↗

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

The Bare Lymphocyte Syndrome and the Regulation of MHC ExpressionSemantic proximity Read ↗

Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.Semantic proximity Read ↗

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

Discoordinate expression of invariant chain and MHC class II genes in class II transactivator-transfected fibroblasts defective for RFX5.Semantic proximity Read ↗

A patient with RFX5 variant causing an expression defect in both HLA ABC and HLA DR.Semantic proximity Read ↗

Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.Semantic proximity Read ↗

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