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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.

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Impaired T3 transport and action underlies the pathophisiology of the Allan-Herdon-Dudley syndrome

Project description:Patients with mutations in the thyroid hormone (TH) cell transporter MCT8 gene develop severe neuropsychomotor retardation known as the Allan-Herndon-Dudley syndrome (AHDS). It is assumed that this is caused by a reduction in TH signaling in the developing brain during both intrauterine and postnatal developmental stages, and treatment remains understandably challenging. Given species differences in brain TH transporters and the limitations of studies in mice, we generated cerebral organoids (COs) using human iPSCs from MCT8-deficient patients. We found that MCT8-deficient COs exhibit (i) alterations in early neurodevelopment, resulting in smaller neural rosettes with thinner cortical units, (ii) impaired T3 transport in developing neural cells, as assessed through deiodinase-3-mediated T3 catabolism, (iii) reduced expression of genes involved in cerebral cortex development, and (iv) reduced T3-inducibility of TH-regulated genes. In contrast, the TH-analogs 3,5-diiodothyropropionic acid and 3,3’,5-triiodothyroacetic acid triggered normal responses (induction/repression of T3-responsive genes) in MCT8-deficient COs, constituting a proof-of-concept that lack of T3 transport underlies the pathophysiology of AHDS, and demonstrating the clinical potential for TH analogues to be used in treating AHDS patients. MCT8-deficient COs represent a species-specific relevant preclinical model that can be utilized to screen drugs with potential benefits as personalized therapeutics for AHDS patients.

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