STING-associated vasculopathy with onset in infancy: a familial case series report and literature review.

ABSTRACT: Stimulator of interferon genes (STING1) is a key intermediary in activating the type I IFN response. STING-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammatory disease that is caused by heterozygous gain-of-function mutations in STING1. SAVI typically manifests as neonatal-onset systemic inflammation, interstitial lung disease (ILD), and severe cutaneous vasculopathy located in acral regions, including fingers, toes, ears, and nose. Severity of ILD and recurrent pulmonary infections are crucial for the prognosis. Therapeutic options for SAVI are quite limited, and JAK inhibitors are considered to be a promising treatment according to several recent case reports. We report on a familial case series of SAVI with the R281Q mutation in the <

SUBMITTER: Wang Y 

PROVIDER: S-EPMC7867893 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature