Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

Stimulator of interferon genes (STING), which is encoded by transmembrane protein 173 (TMEM173), is an important mediator in initiating innate immune responses by detecting aberrant DNA species or cyclic di-GMP-AMP (cGAMP) in the cytosol and driving synthesis of type I interferon.1-3 cGAMP molecules, which are produced by cyclic GMP-AMP synthase, bind to STING homodimers embedded in the endoplasmic reticulum membrane and eventually cause phosphorylation of interferon regulatory factor 3 by activating Tank-binding kinase 1 (TBK1).

from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2igG9gV
via IFTTT