Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

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

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

PROVIDER: PRJNA890197 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

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

Project description:We descrie a cohort of 10 families, with 16 patients, that presented with severe early onset allergic disease since birth. Disease inhertance was in an autosomal dominant manner and heterozygous variants in STAT6 were identified in all patients. Whole blood bulk RNAsequencing was done on patient 6 to understand treatment specific transcriptomic changes in this patient.

2023-02-20 | GSE215390 | GEO

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

2023-02-20 | GSE222646 | GEO

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

2023-02-20 | GSE215405 | GEO

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

| PRJNA890214 | ENA

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

| PRJNA922960 | ENA

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]

| PRJNA890221 | ENA

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

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-02-20 | GSE215406 | GEO

Expression Data from BALB/c and Stat6-deficient bone marrow derived macrophages (BMDM)

Project description:We used microarrays to find Stat6 dependent genes in control and IL-4 exposed bone marrow derived macrophages. Alternatively activated macrophages (AAM) accumulate in tissues during Th2-associated immune responses like helminth infections and allergic disorders. These cells possess potent inhibitory activity against T cells. The differentiation of AAM depends on IL-4/IL-13-mediated activation of the transcription factor Stat6. Stat6 is also required in AAM to induce several genes, such as YM1, FIZZ1 and Arginase1.

2010-07-19 | GSE20030 | GEO

Heterozygous OAS1 Gain-of-Function Variants Cause a Polymorphic Autoinflammatory and Immunodeficiency Syndrome

Project description:Oligoadenylate synthase 1 (OAS1) is a type-1 interferon-inducible, intracellular double-stranded RNA (dsRNA) sensor that generates 2'-5'-oligoadenylate (2-5A) to activate RNaseL as a means of antiviral defense. We report four de novo heterozygous OAS1 variants in five patients. Variant OAS1 proteins show dsRNA-independent gain-of-function 2-5A synthetase activity that results in RNaseL-mediated RNA-cleavage, transcriptomic downregulation, and functional impairment and/or apoptosis of monocytes, iPSC-derived macrophages, and B-cells. This leads to a polymorphic syndrome of monocyte, macrophage, and B-cell deficiency characterized by autoinflammation, pulmonary alveolar proteinosis, and hypogammaglobulinemia. RNase-L-inhibition in vitro mitigates, and hematopoietic cell transplantation in vivo corrects the autoinflammatory and immunodeficiency phenotype.

2021-06-18 | GSE173667 | GEO

T-bet and STAT6 Coordinately Suppress the Development of IL-9-mediated Atopic Dermatitis-like Skin Inflammation in Mice

Project description:T-bet and STAT6 are critical factors for helper T cell differentiation in humans and mice. Additionally, polymorphisms in TBX21 (T-bet) and STAT6 are associated with the susceptibility of allergic diseases. However, precise mechanisms of the reciprocal regulation between T-bet and STAT6 in allergy remain unclear. To determine the reciprocal regulation in vivo, we investigated the phenotype of T-bet/STAT6 double-deficient (T-bet-/- STAT6-/-) mice. Unexpectedly, T-bet-/- STAT6-/- mice but not T-bet-/- mice or STAT6-/- mice spontaneously developed severe dermatitis. Not only eosinophils and mast cells but also CD4+ T cells infiltrated into the skin of T-bet-/- STAT6-/- mice. Adoptive transfer of CD4+ T cells of T-bet-/- STAT6-/- mice into SCID mice induced the accumulation of eosinophils and mast cells in the skin, while depletion of CD4+ T cells ameliorated the dermatitis in T-bet-/- STAT6-/- mice. Comprehensive transcriptome analyses revealed that IL-9 expression was enhanced in T-bet-/- STAT6-/- CD4+ T cells. Indeed, IL-9 neutralization ameliorated the dermatitis in T-bet-/- STAT6-/- mice. Importantly, T-bet-/- STAT6-/- CD4+ T cells expressed functional TSLP receptor and produced large amounts of IL-9 upon TSLP stimulation. These results indicate that T-bet and STAT6 suppress atopic dermatitis-like skin inflammation, possibly by inhibiting TSLP-dependent IL-9 production in CD4+ T cells.

2020-08-15 | GSE156288 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data