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Article

[Primary immunodeficiencies and Bruton's disease genetic analysis: which prospects offers this genetic diagnosis?].

Annales de biologie clinique - 1 Jan 2000

d'Audigier C, Rodriguez C, Bertrand V

Abstract excerpt

Bruton's disease is the most frequently primary X-linked immunodeficiency. Bruton's tyrosine kinase (Btk) is encoded by the XLA gene that when mutated causes bruton's disease. This protein acts in multiple intracellular signaling pathways where the BCR (B-cell receptor) pathway is the most elucid...

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Source

Identifiers

PMID: 17040872

Genes

BCR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17040872-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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