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      Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function 

      Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C.; Darin, Niklas; Debray, François Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Martí Carrera, María Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie Christine; Oppermann, Ilena; Pérez Dueñas, Belén; Popp, Bernt; Rodero, Mathieu P.; Rodríguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; Van Haren, Keith; Tomás Vila, Miguel; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J. (Wiley, 2020-01)
      IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining ...