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Article

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

Immunogenetics - 1 Nov 2003

Prod'homme Thomas, Dekel Benjamin, Barbieri Giovanna, Lisowska-Grospierre Barbara, Katz Rina, Charron Dominique, Alcaide-Loridan Catherine, Pollack Shimon

Abstract excerpt

MHC class II deficiency provokes a severe immunodeficiency characterized by a lack of antigen-specific immune response. In the absence of bone marrow transplantation (the only curative treatment), patients affected by this genetic recessive disease die in early childhood. However, others and we have recently described cases of mild or asymptomatic immunodeficiencies with defects in either CIITA (class II...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14574520
DOI: 10.1007/s00251-003-0609-2

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

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.PMID 14574520Read ↗

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

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.Semantic proximity Read ↗

MHC class II deficiency: Report of a novel mutation and special review.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 ↗

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

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.Semantic proximity Read ↗

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

Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.Semantic proximity Read ↗

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

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

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

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