ArticleHaematologica2013
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Article in Haematologica, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 38 citations in OpenAlex.
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- A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID.Journal of clinical immunology · 2025Article
- Functional insights of an uncommon hypomorphic variant inFrontiers in immunology · 2025Article
- Gene therapy for inborn errors of immunity: past, present and future.Nature reviews. Immunology · 2023Review
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- Somatic Reversion of a NovelGenes · 2021Article
- Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells.The New England journal of medicine · 2021Article
- Interleukin-15 enhances proinflammatory T-cell responses in patients with MS and EAE.Neurology(R) neuroimmunology & neuroinflammation · 2021Article
- Reversion Mosaicism in Primary Immunodeficiency Diseases.Frontiers in immunology · 2021Review
- Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant ofFrontiers in pediatrics · 2021Article
- Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.Frontiers in immunology · 2021Article
- Article
- Immune Reconstitution After Gene Therapy Approaches in Patients With X-Linked Severe Combined Immunodeficiency Disease.Frontiers in immunology · 2020Review
- CD3εFrontiers in immunology · 2020Article
- Noncystic Fibrosis Bronchiectasis: Evaluation of an Extensive Diagnostic Protocol in Determining Pediatric Lung Disease Etiology.Pediatric allergy, immunology, and pulmonology · 2019Article
- Somatic genetic rescue in Mendelian haematopoietic diseases.Nature reviews. Genetics · 2019Review
- Darwinian selection within an individual or somatic selection: facts and models.Journal of molecular cell biology · 2019Article
- A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.International journal of hematology · 2019Article
- Flow Cytometry for Diagnosis of Primary Immune Deficiencies-A Tertiary Center Experience From North India.Frontiers in immunology · 2019Review
- Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the common gamma chain (γc, CD132, encoded by the IL2RG gene) can lead to B(+)T(-)NK(-) X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to γc-cytokines such as interleukins-2, -7 and -15. Hypomorphic mutations in CD132 may cause combined immunodeficiencies with a variety of clinical presentations. We analyzed peripheral blood mononuclear cells of a 6-year-old boy with normal lymphocyte counts, who suffered from recurrent pneumonia and disseminated mollusca contagiosa. Since proliferative responses of T cells and NK cells to γc -cytokines were severely impaired, we performed IL2RG gene analysis, showing a heterozygous mutation in the presence of a single X-chromosome. Interestingly, an IL2RG reversion to normal predominated in both naïve and antigen-primed CD8(+) T cells and increased over time. Only the revertant CD8(+) T cells showed normal expression of CD132 and the various CD8(+) T cell populations had a different T-cell receptor repertoire. Finally, a fraction of γδ(+) T cells and differentiated CD4(+)CD27(-) effector-memory T cells carried the reversion, whereas NK or B cells were repeatedly negative. In conclusion, in a patient with a novel IL2RG mutation, gene-reverted CD8(+) T cells accumulated over time. Our data indicate that selective outgrowth of particular T-cell subsets may occur following reversion at the level of committed T progenitor cells.
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