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

ABSTRACT:

Background

Over 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. Indeed, several revertant mosaicisms have been described in cases with hypomorphic variants in that gene. Our main objective herein was the functional characterization of p. (Pro58Thr) variant in the IL2RG gene in an adult patient with antibody deficiency and moderate CD4⁺ T cell lymphopenia.

Methods

Evaluation of the patient included a clinical examination and a complete analysis of the peripheral blood phenotype. To further explore IL2RG functionality

SUBMITTER: Gonzalez-Torbay A 

PROVIDER: S-EPMC11958980 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature