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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-? 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.

SUBMITTER: Chia J

PROVIDER: S-EPMC4691417 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.

Chia Justin J Eroglu Fehime Kara FK Özen Seza S Orhan Dicle D Montealegre-Sanchez Gina G de Jesus Adriana A AA Goldbach-Mansky Raphaela R Cowen Edward W EW

Journal of the American Academy of Dermatology 20151114 1

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 i ...[more]

PMID: 26584874

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