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Article

Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation.

Frontiers in immunology - 1 Jan 2021

Lin Bin, Torreggiani Sofia, Kahle Dana, Rumsey Dax G, Wright Benjamin L, Montes-Cano Marco A, Silveira Laura Fernandez, Alehashemi Sara, Mitchell Jacob, Aue Alexander G, Ji Zheng, Jin Tengchuan, de Jesus Adriana A, Goldbach-Mansky Raphaela

Abstract excerpt

Gain-of-function mutations in STING1 cause the monogenic interferonopathy, SAVI, which presents with early-onset systemic inflammation, cold-induced vasculopathy and/or interstitial lung disease. We identified 5 patients (3 kindreds) with predominantly peripheral vascular disease who harbor 3 novel STING1 variants, p.H72N, p.F153V, and p.G158A. The latter two were predicted by a previous cryo-EM structure model...

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Identifiers

PMID: 33833757
DOI: 10.3389/fimmu.2021.636225
PMCID: PMC8023226

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