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.Le texte complet de cet article est disponible en PDF.
Key words : autoinflammation, autoinflammatory, gangrene, genodermatosis, inflammation, interferonopathy, interstitial lung disease, vasculitis
Abbreviations used : IFN, JAK, NIH, SAVI, STING
| Supported by the Intramural Program of National Institutes of Health (NIH), Center for Cancer Research, National Cancer Institute, and the National Human Genome Research Institute. Support for Dr Chia's elective rotation at the NIH came from the Canadian Dermatology Foundation Kalz Bursary.
| Conflicts of interest: None declared.
| Editor's note: Dr Goldbach-Mansky at the National Institutes of Health (NIH) is currently studying patients with autoinflammatory syndromes. Clinicians can refer interested patients to the NIH Patient Recruitment and Referral Office at 800-411-1222 or by e-mail to firstname.lastname@example.org.
| Dr Chia evaluated this patient during an elective rotation at the National Institutes of Health.