Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
I Melki, Y Rose, C Uggenti, L Van Eyck… - Journal of Allergy and …, 2017 - Elsevier
Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding
stimulator of interferon genes (STING) underlie a recently described type I interferonopathy
called STING-associated vasculopathy with onset in infancy (SAVI). Objectives We sought to
define the molecular and cellular pathology relating to 3 individuals variably exhibiting the
core features of the SAVI phenotype including systemic inflammation, destructive skin
lesions, and interstitial lung disease. Methods Genetic analysis, conformational studies, in …
stimulator of interferon genes (STING) underlie a recently described type I interferonopathy
called STING-associated vasculopathy with onset in infancy (SAVI). Objectives We sought to
define the molecular and cellular pathology relating to 3 individuals variably exhibiting the
core features of the SAVI phenotype including systemic inflammation, destructive skin
lesions, and interstitial lung disease. Methods Genetic analysis, conformational studies, in …