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    • Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 

      Flanagan, Sarah; Haapaniemi, E.; Russell, Mark; Caswell, Richard C.; Lango Allen, H.; De Franco, Elisa; McDonald, Timothy J.; Rajala, H.; Ramelius, A.; Barton, J.; Heiskanen, K.; Heiskanen-Kosma, T.; Kajosaari, M.; Murphy, N. P.; Milenkovic, T.; Seppänen, M.; Lernmark, Å.; Mustjoki, S.; Otonkoski, T.; Kere, J.; Morgan, Noel G; Ellard, Sian; Hattersley, Andrew T. (Nature, 2014-08)
      Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five ...