savi sessiliflora - GEO DataSets

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Select item 2002678371.

A novel STING variant triggers endothelial toxicity and SAVI disease

(Submitter supplied) Gain-of-function mutations in STING cause STING-associated vasculopathy with onset in infancy (SAVI) characterized by early-onset systemic inflammation, skin vasculopathy, and interstitial lung disease. Here, we report and characterize a novel STING variant (F269S) identified in a SAVI patient. single-cell transcriptomics of patient bone marrow revealed spontaneous activation of interferon (IFN) and inflammatory pathways across cell types and a striking prevalence of circulating naïve T cells was observed. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
2 Samples

Download data: MTX, TSV

Series

Accession:: GSE267837

ID:: 200267837

PubMed Full text in PMC Similar studies

Select item 2002608932.

Endothelial Cell Expression of a STING Gain-of-function Mutation Initiates Pulmonary Lymphocytic Infiltration

(Submitter supplied) Patients afflicted with STING gain-of-function mutations frequently present with debilitating interstitial lung disease (ILD) that is recapitulated in mice expressing the STINGV154M mutation (VM). Prior radiation chimera studies revealed an unexpected and critical role for non-hematopoietic cells in initiating ILD. To identify STING-expressing non-hematopoietic cell types required for the development of ILD, we generated a conditional knock-in (CKI) model and directed expression of the VM allele to hematopoietic cells, fibroblasts, epithelial cells, or endothelial cells. more...

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24247
25 Samples

Download data: TSV

Series

Accession:: GSE260893

ID:: 200260893

PubMed Full text in PMC Similar studies

Select item 2002440623.

Tissue-specific inflammation induced by constitutively active STING is mediated by enhanced TNF signaling

(Submitter supplied) Constitutive activation of STING by gain-of-function mutations triggers manifestation of the systemic autoinflammatory disease STING-associated vasculopathy with onset in infancy (SAVI) in humans and in mice. Murine SAVI is characterized by T cell lymphopenia, severe inflammatory interstitial lung disease, neuroinflammation and neurodegeneration with only limited contribution of type I interferon signaling. more...

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24247
16 Samples

Download data: TSV

Series

Accession:: GSE244062

ID:: 200244062

Select item 2002266014.

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24676
41 Samples

Download data: H5

Series

Accession:: GSE226601

ID:: 200226601

PubMed Full text in PMC Similar studies

Select item 2002265985.

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response II

(Submitter supplied) Gain-of-function mutations in STING1, that codes for the Stimulator of Interferon Gene (STING), result in a severe autoinflammatory disease termed STING-associated vasculopathy with onset in infancy (SAVI). Although elevated type I interferon (IFN) production is thought to be the leading cause of the symptoms observed in patients, STING can induce a set of pathways, and their role in the onset and severity of SAVI remains to be elucidated. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24676
17 Samples

Download data: H5, RDS

Series

Accession:: GSE226598

ID:: 200226598

PubMed Full text in PMC Similar studies

Select item 2002265726.

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response I

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24676
24 Samples

Download data: H5, RDS

Series

Accession:: GSE226572

ID:: 200226572

PubMed Full text in PMC Similar studies

Select item 2001962437.

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

(Submitter supplied) Host defense and inflammation are regulated by the NF-kB essential modulator (NEMO), a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in inhibitor of nuclear factor kappa B kinase regulatory subunit gamma (IKBKG) encoding NEMO typically present with immunodeficiency. Here we characterized a novel pediatric autoinflammatory syndrome in 3 unrelated male patients with distinct X-linked IKBKG germ-line mutations that led to overexpression of a NEMO protein isoform lacking the domain encoded by exon 5 (NEMO-Dex5). more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL11154
257 Samples

Download data: XLSX

Series

Accession:: GSE196243

ID:: 200196243

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 2002266258.

STING-dependent interferon signatures restrict osteoclast differentiation and bone loss in mice

(Submitter supplied) Stimulator of Interferon Genes (STING) is a key mediator of type-I interferon (IFN-I) signaling in response to a variety of stimuli, but the contribution of STING to homeostatic processes is not fully characterized. Previous studies showed ligand activation of STING limits osteoclast differentiation in vitro through the induction of IFN and IFN-I Interferon Stimulated Genes (ISGs). In a disease model (SAVI) driven by the V154M gain-of-function mutation in STING, fewer osteoclasts form from SAVI precursors in response to RANKL in an IFN-I-dependent manner. more...

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL28457
24 Samples

Download data: TSV

Series

Accession:: GSE226625

ID:: 200226625

PubMed Full text in PMC Similar studies

Select item 2001975469.

Serum proteome analysis of systemic JIA and related lung disease identifies distinct inflammatory programs and biomarkers

(Submitter supplied) We used SOMAscan to measure >1300 analytes in sera from healthy controls and patients with sJIA, MAS, sJIA-LD and other related diseases.

Organism:: Homo sapiens

Type:: Protein profiling by protein array

Platform:: GPL23119
162 Samples

Download data: TXT

Series

Accession:: GSE197546

ID:: 200197546

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 20019634210.

Radioresistant Cells in STING Gain-of-function Mice Initiate Lymphocyte-dependent Lung Inflammation and IFNγ-dependent Mortality

(Submitter supplied) Pediatric patients with constitutively active mutations in the cytosolic dsDNA sensing adaptor STING develop an autoinflammatory syndrome known as STING Associated Vasculopathy with onset in Infancy (SAVI). SAVI patients have elevated interferon stimulated gene expression and suffer from interstitial lung disease (ILD) with lymphocyte predominate bronchus associated lymphoid tissue (BALT). Mice harboring SAVI mutations (STING V154M or VM) that recapitulate human disease also develop lymphocyte rich BALT formation. more...

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL23479
9 Samples

Download data: CSV

Series

Accession:: GSE196342

ID:: 200196342

Select item 20011119611.

Gene expression in STING-/- MEF cells expressing STING R284S variant

(Submitter supplied) STING R284S variant is constitutively active and induces inflammatory genes even in absence of STING ligand cGAMP.

Organism:: Mus musculus

Type:: Expression profiling by array

Platform:: GPL16570
8 Samples

Download data: CEL

Series

Accession:: GSE111196

ID:: 200111196

Analyze with GEO2R

Select item 20011351912.

Identification of Nrf2 regulated genes by RNA sequencing

(Submitter supplied) The transcription factor Nuclear factor (erythroid-derived 2)-like 2 (Nrf2) is activated by the metabolite itaconate during metabolic reprogramming. Activated Nrf2 then dampens the release of pro-inflammatory cytokines and type I IFNs in response to toll-like receptor stimulation. If and how Nrf2 affects cytosolic antiviral sensing and whether this occurs during metabolic reprogramming is currently not known. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL20301
6 Samples

Download data: CSV, TXT

Series

Accession:: GSE113519

ID:: 200113519

Analyze with GEO2R SRA Run Selector

Select item 20010647213.

IRF3 and type I interferons fuel a fatal response to myocardial infarction [single cell RNA-Seq]

(Submitter supplied) Interferon regulatory factor 3 (IRF3) and type I interferons (IFNs) protect against infections1 and cancer2, but excessive IRF3 activation and type I IFN production cause autoinflammatory conditions such as Aicardi?Goutières syndrome3,4 and STING-associated vasculopathy of infancy (SAVI)3. Myocardial infarction (MI) elicits inflammation5, but the dominant molecular drivers of MI-associated inflammation remain unclear. more...

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL17021
3 Samples

Download data: MTX, TSV, TXT

Series

Accession:: GSE106472

ID:: 200106472

PubMed Full text in PMC Similar studies SRA Run Selector

Select item 20010647114.

IRF3 and type I interferons fuel a fatal response to myocardial infarction [bulk RNA-Seq]

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing

Platform:: GPL17021
6 Samples

Download data: TXT

Series

Accession:: GSE106471

ID:: 200106471

PubMed Full text in PMC Similar studies SRA Run Selector

Select item 20001201415.

Expression of EBV miRNAs in numerous EBV-positive cell lines

(Submitter supplied) EBV-positive cell lines were assayed for expression of EBV miRNAs. The names of the miRNAs are from miRBase from Fall 2007. Microarray probes are tandem complements of the mature miRNA sequence. We assayed Burkitt's lymphoma (BL), Nasopharyngeal carcinoma, post-transplant lymphoproliferative disease (PTLD), primary effusion lymphoma, and lymphoblastoid cell lines. We also assayed primary B cells that were infected with the B95-8 strain of EBV, which was found to express EBV miRNAs as early as 20 hours post infection. more...