Activated STING in a vascular and pulmonary syndrome.

  title={Activated STING in a vascular and pulmonary syndrome.},
  author={Yashu Liu and Adriana Almeida de Jesus and Bernadette Marrero and Dong Kwon Yang and Susan E. Ramsey and Gina A. Montealegre Sanchez and Klaus Tenbrock and Helmut Wittkowski and Olcay Y. Jones and Hye Sun Kuehn and C-C R Lee and Mario A. DiMattia and Edward West Cowen and Beatriz Gonz{\'a}lez and Ira W Palmer and J J DiGiovanna and Ang{\'e}lique Biancotto and H Kim and Wanxia Li Tsai and Anna M. Trier and Yan Huang and Deborah L. Stone and Samantha J Hill and H J Kim and Cynthia St Hilaire and Shakuntala Gurprasad and Nicole Plass and Dawn C. Chapelle and I. Horkayne-Szakaly and Dirk Foell and Andrei Barysenka and Fabio Candotti and Steven M Holland and Joshua Hughes and Huseyin Mehmet and Andrew C. Issekutz and Miriam R. Raffeld and Joshua J McElwee and Joseph R. Fontana and Caterina P Minniti and Susan Moir and Daniel L. Kastner and Massimo Gadina and Alasdair C. Steven and Paul T Wingfield and Stephen R. Brooks and Sergio Damian Rosenzweig and Thomas A. Fleisher and Zhi-hua Deng and Manfred Boehm and Amy Paller and Raphaela T Goldbach-Mansky},
  journal={The New England journal of medicine},
  volume={371 6},
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 similar clinical phenotypes. Four children were evaluated clinically and… CONTINUE READING
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