January 2024 in “Pediatric rheumatology online journal” In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.
48 citations
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September 2020 in “Frontiers in Immunology” In this study, researchers found that loss of OGG1 in a mouse model of systemic lupus erythematosus increased IFN-driven immune responses and aggravated skin lesions, suggesting a protective role for OGG1 in SLE skin disease.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
23 citations
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February 2015 in “International Journal of Molecular Sciences” This study found that colchicine treatment significantly reduced hair fiber elongation in cultured hair follicles and altered protein expression and activity in dermal papilla cells, suggesting a role for the ubiquitin-proteasome system in its effects.