Associated Papers
An additional site mutation in MITA/STING gain-of-function mutants abolishes the autoimmune SAVI phenotypes and directs a therapeutic strategy.
Li FX et al.
Cell Insight, 2026
STING: a multifaced player in cellular homeostasis.
Song K et al.
Human Molecular Genetics, 2025
Cell biological insights into human STING variants.
Koide S et al.
Cell Structure and Function, 2025
Mosaic TMEM173 gene mutation R284S leading to STING-associated vasculopathy with onset in infancy (SAVI).
Yang Z et al.
International Journal of Dermatology, 2025
Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.
Goldbach-Mansky R et al.
Nature Reviews. Rheumatology, 2025
Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review.
Chen Y et al.
Frontiers in Immunology, 2025
Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib.
Tokgun PE et al.
Archives of Rheumatology, 2023
Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China.
Shen D et al.
Medicine, 2022
Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis.
Guffroy A et al.
Journal of Clinical Immunology, 2022
Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.
Kul Cinar O et al.
Frontiers in Pediatrics, 2022
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
STING-associated vasculopathy with onset in infancy: a familial case series report and literature review.
Wang Y et al.
Annals of Translational Medicine, 2021
Familial Interstitial Lung Disease Caused by Mutation of the STING1 Gene.
Li J et al.
Frontiers in Pediatrics, 2020
Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.
Staels F et al.
Frontiers in Immunology, 2020
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Systematic Review of Case Reports.
Dai Y et al.
Frontiers in Pediatrics, 2020
The Challenge of Diagnosing SAVI: Case Studies.
Cao Y et al.
Pediatric Allergy, Immunology, and Pulmonology, 2019
TMEM173 variants and potential importance to human biology and disease.
Patel S et al.
Genes and Immunity, 2019
Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.
Konno H et al.
Cell Reports, 2018
Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.
Seo J et al.
The Journal of Allergy and Clinical Immunology, 2017