A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

Abstract excerpt

Background: Mutations in the gene encoding Stimulator of Interferon Genes (STING) underlie a type I interferon associated disease, STING associated vasculopathy with onset in infancy (SAVI). Patients suffer cutaneous vasculopathy and interstitial lung disease, but are not known to suffer life-threatening infection. Case: We describe a child who presented with Pneumocystis jirovecii pneumonia in early life, from...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cytokine Signaling Pathways and Interactions
• Share to interferon and immune responses
• Share to Systemic Lupus Erythematosus Research