ArticleJournal of immunology research2014
Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.
Article in Journal of immunology research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 47 citations in OpenAlex.
- A novel CD40LG mutation causing X‑linked hyper-IgM syndrome.Global medical genetics · 2025Article
- Recurrent Talaromyces Marneffei Infection Revealing X-Linked Hyper IgM Syndrome in an HIV-Negative Infant: A Diagnostic and Therapeutic Challenge.Infection and drug resistance · 2025Article
- A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.Immunogenetics · 2024Article
- Genetic screening in a Brazilian cohort with inborn errors of immunity.BMC genomic data · 2023Article
- Inborn errors of immunity in mainland China: the past, present and future.BMJ paediatrics open · 2023Review
- Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.BMC medical genomics · 2022Article
- CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.Journal of clinical immunology · 2022Article
- CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.Molecular genetics & genomic medicine · 2021Article
- Mitochondrial DNA insert into CD40 ligand gene-associated X-linked hyper-IgM syndrome.Molecular genetics & genomic medicine · 2021Article
- Imaging Features of Primary Immunodeficiency Disorders.Radiology. Cardiothoracic imaging · 2021Review
- X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis-a Case Report.Journal of clinical immunology · 2020Article
- Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.Clinical immunology (Orlando, Fla.) · 2018Article
- A NovelFrontiers in pediatrics · 2018Article
- An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation.Case reports in immunology · 2018Article
- Frequency ofTurk pediatri arsivi · 2017Article
- Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.The Journal of allergy and clinical immunology · 2017Observational
- Genetics of inflammatory bowel disease from multifactorial to monogenic forms.World journal of gastroenterology · 2015Review
- Microarray analysis of potential genes in the pathogenesis of recurrent oral ulcer.International journal of clinical and experimental pathology · 2015Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days-21 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in CD40L gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM.
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