title: Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.
abstract: Key teaching points • SAVI is a recently described interferonopathy resulting from constitutive action of STING and up-regulation of IFN-β signaling. • SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease. It has overlapping features with Aicardi-Goutières syndrome and familial chilblain lupus. • Traditional immunosuppressive medications and biologic therapies appear to be of limited benefit, but JAK inhibitors may impact disease progression.
authors.affiliation: Division of Dermatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Justin
authors.initials: J
authors.lastname: Chia
authors.affiliation: Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.
authors.forename: Fehime Kara
authors.initials: FK
authors.lastname: Eroglu
authors.affiliation: Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.
authors.forename: Seza
authors.initials: S
authors.lastname: Özen
authors.affiliation: Department of Pathology, Hacettepe University, Ankara, Turkey.
authors.forename: Dicle
authors.initials: D
authors.lastname: Orhan
authors.affiliation: Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
authors.forename: Gina
authors.initials: G
authors.lastname: Montealegre-Sanchez
authors.affiliation: Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
authors.forename: Adriana A
authors.initials: AA
authors.lastname: de Jesus
authors.affiliation: Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
authors.forename: Raphaela
authors.initials: R
authors.lastname: Goldbach-Mansky
authors.affiliation: Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address: cowene@mail.nih.gov.
authors.forename: Edward W
authors.initials: EW
authors.lastname: Cowen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics; D018450:Disease Progression; D005183:Failure to Thrive; D005385:Fingers / Q000473:pathology; D006801:Humans; D007370:Interferon Type I / Q000235:genetics*; D017563:Lung Diseases, Interstitial / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009336:Necrosis / Q000175:diagnosis; D035583:Rare Diseases; D017445:Skin Diseases, Vascular / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000473:pathology
chemical_list: D007370:Interferon Type I
keywords: autoinflammation; autoinflammatory; gangrene; genodermatosis; inflammation; interferonopathy; interstitial lung disease; vasculitis