Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 26584874.
- Also identified by DOI 10.1016/j.jaad.2015.10.007 and PMC identifier 4691417.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Autoimmune Diseases
- Interferon Type I
- Lung Diseases, Interstitial
- Skin Diseases, Vascular