ArticleThe Journal of experimental medicine2024
A novel STING variant triggers endothelial toxicity and SAVI disease.
Article in The Journal of experimental medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- The cGAS-STING/MITA pathway in innate antiviral immunity and beyond.Cell insight · 2026Review
- Natural Selection of the CommonbioRxiv : the preprint server for biology · 2026Article
- HSCT in SAVI: evidence for a curative hematopoietic approach and perspectives for gene therapy.Molecular therapy. Advances · 2026Article
- Endothelial cell expression of STINGThe Journal of investigative dermatology · 2026Article
- Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- The mutational landscape of STING-induced immunity.Nature · 2026Article
- Interferon stimulatory DNA activates the DNA damage signaling through ATM and DNA-PK sensing.The Journal of biological chemistry · 2026Article
- First successful allogeneic hematopoietic stem cell transplantation in STING-associated vasculopathy of infancy-A case report.Molecular therapy. Advances · 2026Article
- An additional site mutation in MITA/STING gain-of-function mutants abolishes the autoimmune SAVI phenotypes and directs a therapeutic strategy.Cell insight · 2026Article
- SAVI: molecular mechanisms, clinical spectrum and precision medicine approaches beyond type-I IFN.Frontiers in immunology · 2026Review
- Case Report: Genetically primed hyperinflammation: cytomegalovirus-triggered HLH-like syndrome in an adolescent with a gain-of-function STING1 (p.Arg281Trp) variant with novel autosomal dominant inheritance and atypical presentation.Frontiers in immunology · 2026Article
- Type I interferon pathway activation in connective tissue disease associated interstitial lung disease.Frontiers in immunology · 2026Review
- PRRs-Dependent and Independent Mechanisms of STING Signaling in Inflammatory and Autoimmune Diseases.Biomedicines · 2025Review
- STING: a multifaced player in cellular homeostasis.Human molecular genetics · 2025Review
- Article
- Severe interstitial lung disease as the first manifestation of a STING1 variant in a familial case.Immunologic research · 2025Article
- Cell biological insights into human STING variants.Cell structure and function · 2025Review
- DNA-sensing pathways in health, autoinflammatory and autoimmune diseases.Nature immunology · 2024Review
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
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. Inducible STING F269S expression conferred enhanced signaling through ligand-independent translocation of the protein to the Golgi, protecting cells from viral infections but preventing their efficient immune priming. Additionally, endothelial cell activation was promoted and further exacerbated by cytokine secretion by SAVI immune cells, resulting in inflammation and endothelial damage. Our findings identify STING F269S mutation as a novel pathogenic variant causing SAVI, highlight the importance of the crosstalk between endothelial and immune cells in the context of lung disease, and contribute to a better understanding of how aberrant STING activation can cause pathology.
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Registered trials
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