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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

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 infections, oral ulcers and otitis media, the diagnosis was significantly delayed. One patient developed anti-phospholipid syndrome, which has been documented for the first time in XHIGM syndrome. Two patients had elevated IgM levels and all of them had low IgG levels. Exome sequencing revealed mutations in the CD40LG gene: one novel splicing mutation c.156+2T>A and two previously characterised mutations (non-frameshift deletion c.436_438delTAC, stop-gain c.654C>A). Due to these mutations, the CD40 ligand was not expressed in any of the three patients, as demonstrated by western blot analysis. Conclusion: This is the first report of XHIGM syndrome in Vietnam indicates that an effective diagnostic strategy, such as sequencing analysis, contributes to reliable diagnosis and subsequent therapy.

Original languageEnglish
Article numbere1732
JournalMolecular Genetics and Genomic Medicine
Volume9
Issue number8
Early online date10 Jun 2021
DOIs
Publication statusPublished - 1 Aug 2021

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