Associated Papers
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
David C et al.
Annals of the Rheumatic Diseases, 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
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
Inheritance of STING mosaicism in two half-siblings.
de Becdelièvre A et al.
Journal of Clinical Immunology, 2024
A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.
Weidler S et al.
Pediatric Rheumatology Online Journal, 2024
Membrane traffic governs the STING inflammatory signalling.
Taguchi T
Journal of Biochemistry, 2023
Case report: JAK1/2 inhibition with baricitinib in the treatment of STING-associated vasculopathy with onset in infancy.
Wu J et al.
Pediatric Rheumatology Online Journal, 2023
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
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Wan R et al.
Frontiers in Immunology, 2022
The activity of disease-causative STING variants can be suppressed by wild-type STING through heterocomplex formation.
Shindo R et al.
Frontiers in Cell and Developmental Biology, 2022
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
STING-Mediated Lung Inflammation and Beyond.
Frémond ML et al.
Journal of Clinical Immunology, 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
Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation.
Lin B et al.
Frontiers in Immunology, 2021
A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.
Zeng J et al.
Frontiers in Pediatrics, 2021
A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
Lin B et al.
The Journal of Allergy and Clinical Immunology, 2020
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.
Alghamdi MA et al.
Frontiers in Immunology, 2020
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Al-Dewik N et al.
American Journal of Medical Genetics. Part A, 2019