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Article

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.

The New England journal of medicine - 11 Sept 1997

Villard J, Lisowska-Grospierre B, van den Elsen P, Fischer A, Reith W, Mach B

Abstract excerpt

BACKGROUND: Major-histocompatibility-complex (MHC) class II deficiency is an autosomal recessive primary immunodeficiency disease in which MHC class II molecules are absent. It is a genetically heterogeneous disease of gene regulation resulting from defects in several transactivating genes that regulate the expression of MHC class II genes. The mutations responsible for MHC class II deficiency are classified...

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Source

Identifiers

PMID: 9287230
DOI: 10.1056/NEJM199709113371104

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.PMID 9287230Read ↗

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

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

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

Genetic and molecular definition of complementation group D in MHC class II deficiency.Semantic proximity Read ↗

[MHC class II deficiency (CIITA/RFX deficiency)].Semantic proximity Read ↗

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

Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.Semantic proximity Read ↗

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

Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.Semantic proximity Read ↗

Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene.Semantic proximity Read ↗

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.Semantic proximity Read ↗

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