Y Liu, A A Jesus, B Marrero, D Yang, S E Ramsey, G A Montealegre Sanchez, K Tenbrock, H Wittkowski, O Y Jones, H S Kuehn, C-C R Lee, M A DiMattia, E W Cowen, B Gonzalez, I Palmer, J J DiGiovanna, A Biancotto, H Kim, W L Tsai, A M Trier, Y Huang, D L Stone, S Hill, H J Kim, C St Hilaire, S Gurprasad, N Plass, D Chapelle, I Horkayne-Szakaly, D Foell, A Barysenka, F Candotti, S M Holland, J D Hughes, H Mehmet, A C Issekutz, M Raffeld, J McElwee, J R Fontana, C P Minniti, S Moir, D L Kastner, M Gadina, A C Steven, P T Wingfield, S R Brooks, S D Rosenzweig, T A Fleisher, Z Deng, M Boehm, A S Paller, R Goldbach-Mansky
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 immunologically...
August 7, 2014: New England Journal of Medicine