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Article

[Gene diagnosis of X-linked agammaglobulinemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2005

Wang Xiao-chuan, Wang Ying, Kanegane Hirokazu, Toshio Miyawaki, Yu Ye-heng

Abstract excerpt

OBJECTIVE: X-linked agammaglobulinemia (XLA) is the most common disorder among primary immunodeficiency diseases, which is caused by mutations in the cytoplasmic Bruton's tyrosine kinase (BTK) gene, characterized by lack of mature, circulating B lymphocytes, hypogammaglobulinemia, and recurrent bacterial infections. Mutations in BTK are highly diverse. In this study, genetic analysis was performed on BTK to...

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Source

Identifiers

PMID: 16053733

Genes

BTK

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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