CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication
| Autor: | Linh Thi Truc Pham, Xinh Thi Phan, Thuy Thi Thanh Pham, Vy Nguyen, Tuan Minh Nguyen, Anh Tran, Anh Nguyen Lien Phan, Sigrid M. A. Swagemakers, Petrus Martinus van Hagen, Khanh Thi Xuan Luong, Nghia Huynh, Tam Thi Minh Nguyen, Chi-Bao Bui, Cuc Tran Thu Cao, Duong Thuy Nguyen |
|---|---|
| Přispěvatelé: | Pathology, Internal Medicine, Immunology |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Adult Male Hyper IgM syndrome anti‐phospholipid syndrome Adolescent CD40 Ligand QH426-470 030105 genetics & heredity medicine.disease_cause primary immunodeficiency Clinical Reports 03 medical and health sciences Western blot Genotype Genetics medicine Humans Child Molecular Biology CD40 ligand Genetics (clinical) Exome sequencing Mutation Clinical Report medicine.diagnostic_test business.industry Hyper-IgM Immunodeficiency Syndrome Type 1 hyper‐IgM syndrome medicine.disease Antiphospholipid Syndrome 030104 developmental biology Otitis Phenotype Immunology Primary immunodeficiency whole‐exome sequencing medicine.symptom Complication business |
| Zdroj: | Molecular Genetics & Genomic Medicine Molecular Genetics and Genomic Medicine, 9(8):e1732. John Wiley & Sons Inc. Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021) |
| ISSN: | 2324-9269 |
| Popis: | 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. X‐linked hyper‐IgM syndrome (XHIGM) is a rare primary immunodeficiency caused by CD40 ligand defects. 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.C654A). This first 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. |
| Databáze: | OpenAIRE |
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