Article
A novel STING variant triggers endothelial toxicity and SAVI disease.
The Journal of experimental medicine - 2 Sept 2024
Valeri Erika, Breggion Sara, Barzaghi Federica, Abou Alezz Monah, Crivicich Giovanni, Pagani Isabel, Forneris Federico, Sartirana Claudia, Costantini Matteo, Costi Stefania, Marino Achille, Chiarotto Eleonora, Colavito Davide, Cimaz Rolando, Merelli Ivan, Vicenzi Elisa, Aiuti Alessandro, Kajaste-Rudnitski Anna
Abstract excerpt
Gain-of-function mutations in STING cause STING-associated vasculopathy with onset in infancy (SAVI) characterized by early-onset systemic inflammation, skin vasculopathy, and interstitial lung disease. Here, we report and characterize a novel STING variant (F269S) identified in a SAVI patient. Single-cell transcriptomics of patient bone marrow revealed spontaneous activation of interferon (IFN) and inflammatory...
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