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

doi:10.1016/j.jaci.2016.10.031

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Article

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

The Journal of allergy and clinical immunology - 1 Aug 2017

Melki Isabelle, Rose Yoann, Uggenti Carolina, Van Eyck Lien, Frémond Marie-Louise, Kitabayashi Naoki, Rice Gillian I, Jenkinson Emma M, Boulai Anaïs, Jeremiah Nadia, Gattorno Marco, Volpi Stefano, Sacco Olivero, Terheggen-Lagro Suzanne W J, Tiddens Harm A W M, Meyts Isabelle, Morren Marie-Anne, De Haes Petra, Wouters Carine, Legius Eric, Corveleyn Anniek, Rieux-Laucat Frederic, Bodemer Christine, Callebaut Isabelle, Rodero Mathieu P, Crow Yanick J

Abstract excerpt

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...

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PMID: 28087229
DOI: 10.1016/j.jaci.2016.10.031

Genes

TANK
TBK1

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