STING‐associated vasculopathy with onset in infancy (SAVI) presenting with skin lesions

Abstract

STING‐associated vasculopathy with onset in infancy (SAVI) is caused by pathogenic gain‐of‐function variants in the gene TMEM173 (also named stimulator of interferon genes, STING1). This report details the case of an 11‐year‐old girl with SAVI who presented with skin‐limited symptoms and discusses the phenotype–genotype correlations of the TMEM173 variant present in our patient. Treatment of SAVI focuses on preventing the development or progression of organ damage by reducing systemic inflammation. We summarize the available treatments for this syndrome.