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Severe type 1 interferonopathy due to germline STAT2 gain-of-function

ABSTRACT: Severe type 1 interferonopathy due to germline STAT2 gain-of-function

PROVIDER: PRJEB29090 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR2832570_1.fastq.gz	Fastqsanger.gz
	ERR2832570_2.fastq.gz	Fastqsanger.gz
	ERR2832571_1.fastq.gz	Fastqsanger.gz
	ERR2832571_2.fastq.gz	Fastqsanger.gz
	ERR2832572_1.fastq.gz	Fastqsanger.gz

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Severe type 1 interferonopathy due to germline STAT2 gain-of-function

Project description:The transcription factor STAT2 is essential for transcriptional activation downstream of the receptors for the innate IFNs -α/β (IFNAR) and -gamma (IFNLR). STAT2 is activated by tyrosine phosphorylation, associating with STAT1 and IRF9 to form the Interferon-Stimulated Gene Factor 3 (ISGF3) to effect gene transcription. Loss-of-function variants in STAT2 increase susceptibility to viral disease. Here a transcriptome study is reported on an individual with severe early-onset neuroinflammatory disease and an elevated IFN signature. The individual had a homozygous missense variant in STAT2 and symptoms consistent with a gain-of-function effect.

2019-11-06 | E-MTAB-7275 | biostudies-arrayexpress

RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

Project description:RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

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RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

Project description:Patients with type 1 interferonopathies due to mutations in one of 10 genes were recruited over the course of 4 years. All patients had raised levels of interferon stimulated genes as determined by qPCR. A transcriptome analysis was carried out to compare levels of interferon stimulated genes in the patient with a mutation in STAT2, compared to patients with mutations in other interferonopathy genes.

2020-11-03 | E-MTAB-9722 | biostudies-arrayexpress

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Project description:Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

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Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Project description:Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

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Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease [scRNAseq]

Project description:Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease [scRNAseq]

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Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease [bulk_RNAseq]

Project description:Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease [bulk_RNAseq]

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Germline hypomorphic CARD11 mutations in severe atopic disease

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Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>.

Project description:Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease and an elevated IFN signature. Whole-exome sequencing revealed a shared homozygous missense Arg148Trp variant in STAT2, a transcription factor that functions exclusively downstream of innate IFNs. Cells bearing STAT2R148W in homozygosity (but not heterozygosity) were hypersensitive to IFNα/β, which manifest as prolonged Janus kinase-signal transducers and activators of transcription (STAT) signaling and transcriptional activation. We show that this gain of IFN activity results from the failure of mutant STAT2R148W to interact with ubiquitin-specific protease 18, a key STAT2-dependent negative regulator of IFNα/β signaling. These observations reveal an essential in vivo function of STAT2 in the regulation of human IFNα/β signaling, providing concrete evidence of the serious pathological consequences of unrestrained IFNα/β activity and supporting efforts to target this pathway therapeutically in IFN-associated disease.

| S-EPMC7115903 | biostudies-literature

STAT2 Signaling Regulates Macrophage Phenotype during Influenza and Bacterial Super-infection

Project description:Influenza is the common respiratory problem that infects between 5-20% of the US population and results in 30,000 deaths annually. A primary cause of the influenza-associated death is due to secondary bacterial pneumonia. In this study, we investigated the role of STAT2 signaling during influenza and influenza-bacterial super-infection in mice. Herein, we demonstrate that STAT2 signaling is required for viral control, regulation of inflammation, and limiting mortality during influenza single infection. Surprisingly, despite this deficiency in anti-viral immunity, we found increased bacterial control and survival in STAT2 deficient mice during influenza-MRSA super-infection compared to controls. This protection in the absence of STAT2 was associated with accumulation of dual phenotype M1/M2 macrophages, which were required for control of bacterial infection. Together, these results suggest that the STAT2 signaling is involved in suppressing macrophage activation and bacterial control during influenza-bacterial super-infection.

2018-12-26 | GSE119029 | GEO

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