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Article

CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.

Molecular genetics & genomic medicine - 1 Aug 2021

Phan Anh Nguyen Lien, Pham Thuy Thi Thanh, Phan Xinh Thi, Huynh Nghia, Nguyen Tuan Minh, Cao Cuc Tran Thu, Nguyen Duong Thuy, Luong Khanh Thi Xuan, Nguyen Tam Thi Minh, Tran Anh Ngoc Kim, Pham Linh Thi Truc, Nguyen Vy Vuong Thao, Swagemakers Sigrid, Bui Chi-Bao, Van Hagen Petrus Martinus

Abstract excerpt

BACKGROUND: X-linked hyper-IgM syndrome (XHIGM) is a rare primary immunodeficiency caused by CD40 ligand defects. METHODS: We identified three patients with XHIGM in Ho Chi Minh City, Vietnam. Whole-exome sequencing, immunological analyses and western blot were performed to investigate phenotypic and genotypic features. RESULTS: Despite showing symptoms typical of XHIGM, including recurrent sinopulmonary...

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Identifiers

PMID: 34114358
DOI: 10.1002/mgg3.1732
PMCID: PMC8404229

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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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