Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia

BackgroundOver the last decade, the identification of hypomorphic variants in patients previously diagnosed with Common Variable Immunodeficiency (CVID) has led to the association of milder phenotypes with variants of the IL2RG gene that are usually related to severe combined immunodeficiency. Indee...

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Autors principals:	Andrea González-Torbay, Keren Reche-Yebra, Álvaro Clemente-Bernal, Yolanda Soto Serrano, Luz Yadira Bravo-Gallego, Almudena Fernández López, Rebeca Rodríguez-Pena, María Bravo García-Morato, Eduardo López-Granados, Lucía del Pino-Molina
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2025-03-01
Col·lecció:	Frontiers in Immunology
Matèries:	hypomorphic variants IL2RG gene common cytokine receptor γ chain flow cytometry standardization STAT3 and STAT5 phosphorylation T and B cell proliferation
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1544863/full
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