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Article

Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.

International journal of immunogenetics - 1 Jun 2006

Chan K-W, Chen T, Jiang L, Fok S F-S, Lee T-L, Lee B-W, Yang X, Lau Y-L

Abstract excerpt

X-linked agammaglobulinaemia (XLA) is an immunodeficiency caused by Bruton tyrosine kinase (BTK) gene mutations. The disease is characterized by recurrent bacterial infections and profound hypogammaglobulinemia with marked reduction or lack of mature B-cells in the peripheral blood. Molecular characterization of BTK gene provides an opportunity for definitive diagnosis of XLA patients, especially for those with...

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Source

Identifiers

PMID: 16712653
DOI: 10.1111/j.1744-313X.2006.00598.x

Genes

BTK

Provenance

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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