Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome.

ABSTRACT:

Background

The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17. The clinical characteristics of 17q12DS include neurodevelopmental disorders, kidney and urinary tract abnormalities. In our cohort of 37 subjects with 17q12DS, we observed increased atopic disorders and recurrent sinopulmonary infections, raising the possibility of immune dysregulation in 17q12DS, a feature that has not been previously reported. We tested the hypothesis that individuals with 17q12DS have altered T-cell function, contributing to recurrent infections and atopy.

Methods

Alteration of CD4⁺ T-cell functions was assessed on FACS sorted CD4⁺ T-cells using RNA-seq analysis, and flow cytometry and multiplex assay

SUBMITTER: Shin JJ 

PROVIDER: S-EPMC11840234 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature