ArticleInternational journal of hematology2019
A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.
Article in International journal of hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency.Genes & diseases · 2025Article
- Article
- Clinical Images: X-Linked Combined Immunodeficiency and Granulomatosis With Polyangiitis.ACR open rheumatology · 2024Article
- Exploring the prognostic implications of cuproptosis-associated alterations in clear cell renal cell carcinoma via in vitro experiments.Scientific reports · 2024Article
- Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease.Case reports in medicine · 2024Article
- Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis.Current opinion in virology · 2021Review
- SCID newborn screening: What we've learned.The Journal of allergy and clinical immunology · 2021Review
- Article
- Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy.International journal of hematology · 2020Article
- Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.Human genetics · 2020Review
- Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.Journal of clinical immunology · 2020Article
- Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.Pediatrics international : official journal of the Japan Pediatric SocietyArticle
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients' T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients.
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