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Decreased Th-1 CD4+ T cell function underlies recurrent respiratory infections in 17q12 deletion syndrome

ABSTRACT: Decreased Th-1 CD4+ T cell function underlies recurrent respiratory infections in 17q12 deletion syndrome

PROVIDER: PRJNA1153594 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR30456901_1.fastq.gz	Fastqsanger.gz
	SRR30456901_2.fastq.gz	Fastqsanger.gz
	SRR30456902_1.fastq.gz	Fastqsanger.gz
	SRR30456902_2.fastq.gz	Fastqsanger.gz
	SRR30456903_1.fastq.gz	Fastqsanger.gz

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Decreased Th-1 CD4+ T cell function underlies recurrent respiratory infections in 17q12 deletion syndrome

Project description:The 17q12 deletion syndrome (17q12DS) is a chromosomal aberration with a heterozygous deletion of a 1.4 megabases (Mb)‒spanning DNA sequence on the long arm of chromosome 17. The well-known clinical characteristics of 17q12DS include abnormalities of the kidney and urinary tracts, as well as neurodevelopmental disorders. However, in our cohort of 37 subjects with 17q12DS, we observed increased atopic disorders and recurrent sinopulmonary infections requiring prolonged courses of antibiotic therapies and/ or hospitalizations, raising the possible immune dysregulation in 17q12DS, a point that has not been previously addressed. We thus tested the hypothesis that individuals with 17q12DS[KI1] have altered T-cell function, contributing to recurrent infections and[KI2] atopy. Here we found that individuals with 17q12DS had a substantially decreased frequency of CD4+ T cells producing the T helper (Th) 1 cytokine IFN[KI3]-g but not Th2 and Th17 cytokines compared to age-matched healthy controls (HCs). RNA seq analysis of CD4+ T cells revealed decreased levels of TBX21 encoding the Th1 transcription factor T-bet, IFNG, and other Th1 chemokine encoding genes in subjects with 17q12DS compared to HCs. These findings were validated at the protein level using flow cytometry and multiplex assay. Our study is the first to demonstrated immune alterations in 17q12DS characterized by decreased T-bet and its downstream molecules such as IFN-γ. These findings warrant further investigations into the underlying mechanisms, which would inform precision therapy for individuals with 17q12DS.

2025-02-26 | GSE275915 | GEO

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

Project description:BackgroundThe 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.MethodsAlteration of CD4+ T-cell functions was assessed on FACS sorted CD4+ T-cells using RNA-seq analysis, and flow cytometry and multiplex assays.FindingsWe found that individuals with 17q12DS had a substantially decreased frequency of CD4+ T-cells producing the T helper (Th) 1 cytokine IFN-γ but not Th2 and Th17 cytokines when compared to age-matched healthy controls (HCs). RNA-seq analysis of CD4+ T-cells from subjects with 17q12DS, when compared to HCs, revealed decreased levels of TBX21 encoding the Th1 transcription factor T-bet, IFNG, and other Th1 chemokine genes. These findings were validated using flow cytometry and multiplex assay.InterpretationOur study is the first to demonstrate immune alterations in 17q12DS characterized by decreased T-bet and its downstream effector cytokines such as IFN-γ. These findings warrant further investigation into underlying mechanisms, which would inform precision therapy for individuals with 17q12DS.FundingNational Institutes of HealthKL2 TR001862 to JJS, T35DK104689 to AG, 5T32AR007107 to JPY and LO, 1R01AG056728 to IK, and 1R21AI161838 to IK and JJS.

| S-EPMC11840234 | biostudies-literature

Generated different Th cells

Project description:Generated different Th cells

| PRJNA509418 | ENA