The Challenge of Diagnosing SAVI: Case Studies.

ABSTRACT: Background: Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) was first described in 2014 as a type I interferonopathy resulting from heterozygous mutations in the transmembrane protein 173 (TMEM173) gene. SAVI is characterized by the neonatal onset of systemic inflammation, severe cutaneous vasculopathy, and interstitial lung disease. Janus kinase inhibitors are considered effective therapeutics. We sought to describe 2 patients who were diagnosed with SAVI only at postmortem to increase awareness of this disorder. Methods: Clinical data were collected, and Sanger sequencing of the TMEM173 gene was performed in 2 patients suspected of SAVI. This article reviews details of these cases and lessons learned from clinical review and postmortem studies.

SUBMITTER: Cao Y 

PROVIDER: S-EPMC7057058 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature