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Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.

Molecular biology reports - 23 Aug 2025

Xinh Phan Thi, Chuong Ho Quoc, Thanh Hien Hoang Phan, Nghia Huynh, Lien Anh Phan Nguyen, Le Phuc Hoang, Mai Anh Nguyen Hoang, Van Nguyen Dinh, Vu Hoang Anh

Abstract excerpt

BACKGROUND: X-linked agammaglobulinemia (XLA) is a rare primary immunodeficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene, resulting in severely impaired B-cell development and recurrent bacterial infections in children. Although over 2,000 BTK mutations have been reported worldwide, data from Southeast Asia remain limited. METHODS AND RESULTS: In this study, we conducted a comprehensive...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40848069
DOI: 10.1007/s11033-025-10951-z

Genes

BTK

Provenance

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