publication . Article . Other literature type . 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Melki, Isabelle; Rose, Yoann; Uggenti, Carolina; Van Eyck, Lien; Frémond, Marie-Louise; Kitabayashi, Naoki; Rice, Gillian I.; Jenkinson, Emma M.; Boulai, Anaïs; Jeremiah, Nadia; ...
  • Published: 01 Aug 2017
  • Country: Switzerland
Abstract
<p>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).</p><p>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.</p><p>METHODS: Genetic analysis, conformational studies, in vitro assays and ex vivo flow-cytometry were performed.</p><p>RESULTS: Molecular and in vitro data demonstrat...
Subjects
free text keywords: Cellular pathology, Interferon type I, medicine.drug, medicine, Biology, Sting, IRF3, Immunology, Janus kinase 1, Interferon, Stimulator of interferon genes, Mutation, medicine.disease_cause
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publication . Article . Other literature type . 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Melki, Isabelle; Rose, Yoann; Uggenti, Carolina; Van Eyck, Lien; Frémond, Marie-Louise; Kitabayashi, Naoki; Rice, Gillian I.; Jenkinson, Emma M.; Boulai, Anaïs; Jeremiah, Nadia; ...