ArticleFrontiers in immunology2022
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed.
- The cGAS-STING/MITA pathway in innate antiviral immunity and beyond.Cell insight · 2026Review
- Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.Pediatric pulmonology · 2026Article
- First successful allogeneic hematopoietic stem cell transplantation in STING-associated vasculopathy of infancy-A case report.Molecular therapy. Advances · 2026Article
- Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.Journal of the peripheral nervous system : JPNS · 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
- 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
- SAVI: molecular mechanisms, clinical spectrum and precision medicine approaches beyond type-I IFN.Frontiers in immunology · 2026Review
- STING: a multifaced player in cellular homeostasis.Human molecular genetics · 2025Review
- Article
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.Nature reviews. Rheumatology · 2025Review
- De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- A novel STING variant triggers endothelial toxicity and SAVI disease.The Journal of experimental medicine · 2024Article
- Current genetic diagnostics in inborn errors of immunity.Frontiers in pediatrics · 2024Review
- Case report: JAK1/2 inhibition with baricitinib in the treatment of STING-associated vasculopathy with onset in infancy.Pediatric rheumatology online journal · 2023Article
- Type I Interferonopathies in Childhood.Balkan medical journal · 2023Article
- The role of cGAS-STING signaling in pulmonary fibrosis and its therapeutic potential.Frontiers in immunology · 2023Review
Corrections and comments
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Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.