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Article

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.

The Journal of clinical investigation - 1 Apr 2010

van Zelm Menno C, Smet Julie, Adams Brigitte, Mascart Françoise, Schandené Liliane, Janssen Françoise, Ferster Alina, Kuo Chiung-Chi, Levy Shoshana, van Dongen Jacques J M, van der Burg Mirjam

Abstract excerpt

Antibody deficiencies constitute the largest group of symptomatic primary immunodeficiency diseases. In several patients, mutations in CD19 have been found to underlie disease, demonstrating the critical role for the protein encoded by this gene in antibody responses; CD19 functions in a complex...

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Topics

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Share to Antigens, CD19
Share to B-Lymphocyte Subsets

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Interferon-gamma

Share to Receptors, Antigen, B-Cell

Share to Somatic Hypermutation, Immunoglobulin

Share to T-Lymphocyte Subsets

Share to Tetraspanin 28

Source

Open in PubMed Open full text

Identifiers

PMID: 20237408
DOI: 10.1172/JCI39748
PMCID: PMC2846042

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20237408-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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