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Article

Mutations in Igalpha (CD79a) result in a complete block in B-cell development.

The Journal of clinical investigation - 1 Oct 1999

Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conley M E

Abstract excerpt

Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We screened 25 such patients for mutations in genes encoding components of the pre-B-cell receptor (pre-BCR) complex. A 2-year-old girl was found to have a homozygous splice defect in Igalpha, a...

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Share to Agammaglobulinemia
Share to Antigens, CD
Share to B-Lymphocytes

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

Share to CD79 Antigens

Share to Hematopoietic Stem Cells

Share to Immunoglobulin mu-Chains

Share to Receptors, Antigen, B-Cell

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Source

Open in PubMed Open full text

Identifiers

PMID: 10525050
DOI: 10.1172/JCI7696
PMCID: PMC408581

Genes

BCR

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.

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Mutations in Igalpha (CD79a) result in a complete block in B-cell development.PMID 10525050Read ↗

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