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

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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Main Authors: 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: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Immunology
Subjects:
hypomorphic variants
IL2RG gene
common cytokine receptor γ chain
flow cytometry standardization
STAT3 and STAT5 phosphorylation
T and B cell proliferation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1544863/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1544863/full

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