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Article

Genetic analysis of patients with defects in early B-cell development.

Immunological reviews - 1 Feb 2005

Conley Mary Ellen, Broides Arnon, Hernandez-Trujillo Vivian, Howard Vanessa, Kanegane Hirokazu, Miyawaki Toshio, Shurtleff Sheila A

Abstract excerpt

Approximately 85% of patients with defects in early B-cell development have X-linked agammaglobulinemia (XLA), a disorder caused by mutations in the cytoplasmic Bruton's tyrosine kinase (Btk). Although Btk is activated by cross-linking of a variety of cell-surface receptors, the most critical signal transduction pathway is the one initiated by the pre-B cell and B-cell antigen receptor complex. Mutations in Btk...

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Identifiers

PMID: 15661032
DOI: 10.1111/j.0105-2896.2005.00233.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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