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Article

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.

Orphanet journal of rare diseases - 21 Feb 2026

Anh Phan Nguyen Lien, Tuan Nguyen Minh, Cuc Cao Tran Thu, Khanh Luong Thi Xuan, Thach Phan Ngo Quang, Hung Nguyen Thanh, Minh Ngo Ngoc Quang, Bao Bui Chi, Nghia Huynh, Vu Hoang Anh, Xinh Phan Thi

Abstract excerpt

BACKGROUND: Inborn Errors of Immunity (IEIs) are rare genetic disorders that cause immunodeficiency. Diagnosis and classification of these disorders are challenging due to the heterogeneous clinical manifestations and genetic mutations. This is the first study to fully describe the spectrum of gene mutations and genetic diversity of IEIs in Vietnamese pediatric patients. METHODS: A cross-sectional study was...

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Identifiers

PMID: 41723525
DOI: 10.1186/s13023-026-04260-2
PMCID: PMC13032614

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