A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
19 auth. Qing Zhou, Geun-Shik Lee, J. Brady, Shrimati Datta, M. Katan, Afzal Sheikh, M. Martins, T. D. Bunney, Brian H. Santich, S. Moir, ... D. Kuhns, D. L. Long Priel, A. Ombrello, D. Stone, Michael J. Ombrello, J. Khan, J. Milner, D. Kastner, I. Aksentijevich