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 language | English |
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Article number | e1732 |
Journal | Molecular Genetics and Genomic Medicine |
Volume | 9 |
Issue number | 8 |
Early online date | 10 Jun 2021 |
DOIs | |
Publication status | Published - 1 Aug 2021 |
Bibliographical note
Funding Information:We are deeply grateful to the families who participated in this study. We thank Dr Jaekyoon Shin, Sungkyunkwan University, for support in conducting the western blot analysis. This study was mainly supported by the Ken-ichi Arai Scholarship 2019.
Publisher Copyright:
© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.