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The p.H72N variant in exon 3, however, is the first SAVI-causing variant in the transmembrane linker region. The latter two were predicted by a previous cryo-EM structure model to cause STING autoactivation. We identified 5 patients (3 kindreds) with predominantly peripheral vascular disease who harbor 3 novel STING1 variants, p.H72N, p.F153V, and p.G158A. 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. 7 Laboratory of Structural Immunology, CAS Key Laboratory of Innate Immunity and Chronic Disease, CAS Center for Excellence in Molecular Cell Science, School of Life Sciences and Medical Center, University of Science and Technology of China, Hefei, China.
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4 Division of Allergy, Asthma, and Clinical Immunology, Department of Medicine, Mayo Clinic, Scottsdale, AZ, United States.3 Section of Allergy and Immunology, Division of Pulmonology, Phoenix Children's Hospital, Phoenix, AZ, United States.2 Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.1 Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.