CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication
| العنوان: | CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication |
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| المؤلفون: | 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 |
| المساهمون: | Pathology, Internal Medicine, Immunology |
| المصدر: | 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) |
| بيانات النشر: | John Wiley and Sons Inc., 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2324-9269 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db0f8bd5d9220d5f640107882e121896Test http://europepmc.org/articles/PMC8404229Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....db0f8bd5d9220d5f640107882e121896 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23249269 |
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