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Article

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.

The Journal of allergy and clinical immunology - 1 Sept 2005

López-Granados Eduardo, Pérez de Diego Rebeca, Ferreira Cerdán Antonio, Fontán Casariego Gumersindo, García Rodríguez Maria Cruz

Abstract excerpt

BACKGROUND: X-linked (Bruton's) agammaglobulinemia (XLA) is a rare immunodeficiency caused by a block in B-cell development caused by mutations in the Bruton's tyrosine kinase (BTK) gene. Many aspects of XLA and BTK function remain unresolved; atypical presentations have been reported, and no cle...

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Source

Identifiers

PMID: 16159644
DOI: 10.1016/j.jaci.2005.04.043

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16159644-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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