Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.

Immunogenetics - 1 Apr 1999

Peijnenburg A, Van Eggermond M C, Van den Berg R, Sanal O, Vossen J M, Van den Elsen P J

Abstract excerpt

Patients suffering from major histocompatibility complex (MHC) class II deficiency, a rare primary immunodeficiency, are characterized by a lack of MHC class II expression which is the result of defects in trans-acting factors. At least four complementation groups, A, B, C, and D, can be discerned. The gene affected in group C patients is known to be RFX5 and encodes one of the subunits of the multimeric...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fibroblasts
Share to Genetic Complementation Test

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class II

Share to HLA-DP Antigens

Share to HLA-DR Antigens

Share to Immunologic Deficiency Syndromes

Share to Regulatory Factor X Transcription Factors

Share to RNA Splicing

Source

Identifiers

PMID: 10079298
DOI: 10.1007/s002510050501

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.PMID 10079298Read ↗

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

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

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

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

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

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

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

Functional domain structure of human T-cell leukemia virus type 2 rex.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 ↗

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 ↗

Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.