ArticlePediatric rheumatology online journal2020
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype.
Article in Pediatric rheumatology online journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.Annals of the rheumatic diseases · 2022Pooled it
- Lung-only involvement in STING-associated vasculopathy with onset in infancy: a diagnostic pitfall in the absence of cutaneous vasculitis.Zeitschrift fur Rheumatologie · 2026Article
- SAVI: molecular mechanisms, clinical spectrum and precision medicine approaches beyond type-I IFN.Frontiers in immunology · 2026Review
- Genetic Familial Interstitial Lung Disease.Clinics in chest medicine · 2025Review
- The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.Clinical reviews in allergy & immunology · 2025Article
- [Research progress on the cGAS-STING signaling pathway in immune-mediated inflammatory diseases in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.Nature reviews. Rheumatology · 2025Review
- Tissue inflammation induced by constitutively active STING is mediated by enhanced TNF signaling.eLife · 2025Article
- Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review.Frontiers in immunology · 2025Review
- Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.Journal of clinical immunology · 2023Article
- RelB-deficient autoinflammatory pathology presents as interferonopathy, but in mice is interferon-independent.The Journal of allergy and clinical immunology · 2023Article
- JAK Inhibition in Juvenile Idiopathic Arthritis (JIA): Better Understanding of a Promising Therapy for Refractory Cases.Journal of clinical medicine · 2023Review
- Clinical Presentation and Treatment of Juvenile Idiopathic Arthritis Combined with Lung Disease: A Narrative Review.Rheumatology and therapy · 2023Review
- Interferon in systemic lupus erythematosus-A halfway between monogenic autoinflammatory and autoimmune disease.Heliyon · 2022Review
- Review
- Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.AJNR. American journal of neuroradiology · 2022Review
- The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience.Frontiers in pediatrics · 2022Article
- Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.International journal of molecular sciences · 2021Review
- STING-Mediated Lung Inflammation and Beyond.Journal of clinical immunology · 2021Review
- STING-associated vasculopathy with onset in infancy: a familial case series report and literature review.Annals of translational medicine · 2021Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundSTING-associated vasculopathy with onset in infancy (SAVI) is a type 1 interferonopathy manifesting as a pulmonary and vascular syndrome resulting from gain-of-function mutations in TMEM173, the gene encoding STING. Familial reports in the literature are sparse. CASE PRESENTATION: We report a case series of SAVI in a three generation kindred, with a phenotype of interstitial lung disease (ILD) and rheumatoid factor positive polyarticular juvenile idiopathic arthritis (JIA). Current and historical medical records were reviewed for clinical and laboratory information. Whole blood from cases 1 and 2, plus stored appendicectomy tissue from case 3, underwent DNA sequencing of the TMEM173 gene. Peripheral blood RNA was obtained from cases 1 and 2 for functional assessment of the TMEM173 mutation. DNA sequencing identified the same heterozygous TMEM173 mutation (c.463G > A; p.Val155Met) in all three cases, consistent with a diagnosis of the autosomal dominant condition SAVI. Functional assessment of this mutation identified a prominent interferon signature which was confirmed on repeat testing.
conclusionsSAVI presented in this family as ILD with early onset juvenile rheumatoid arthritis. This condition should be considered in all rheumatoid arthritis patients with early-onset ILD and in all JIA patients with ILD.
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