Article
Activated STING in a vascular and pulmonary syndrome.
The New England journal of medicine - 7 Aug 2014
Liu Y, Jesus A A, Marrero B, Yang D, Ramsey S E, Sanchez G A Montealegre, Tenbrock K, Wittkowski H, Jones O Y, Kuehn H S, Lee C-C R, DiMattia M A, Cowen E W, Gonzalez B, Palmer I, DiGiovanna J J, Biancotto A, Kim H, Tsai W L, Trier A M, Huang Y, Stone D L, Hill S, Kim H J, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland S M, Hughes J D, Mehmet H, Issekutz A C, Raffeld M, McElwee J, Fontana J R, Minniti C P, Moir S, Kastner D L, Gadina M, Steven A C, Wingfield P T, Brooks S R, Rosenzweig S D, Fleisher T A, Deng Z, Boehm M, Paller A S, Goldbach-Mansky R
Abstract excerpt
BACKGROUND: The study of autoinflammatory diseases has uncovered mechanisms underlying cytokine dysregulation and inflammation. METHODS: We analyzed the DNA of an index patient with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. We sequenced a candidate gene, TMEM173, encoding the stimulator of interferon genes (STING), in this patient and in five unrelated children with...
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