Article
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Human mutation - 1 Apr 2020
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, Marti Itxaso, Mignot Cyril, Mochel Fanny, Nougues Marie-Christine, Oppermann Ilena, Pérez-Dueñas Belén, Popp Bernt, Rodero Mathieu P, Rodriguez Diana, Saletti Veronica, Sharpe Cia, Tonduti Davide, Vadlamani Gayatri, Van Haren Keith, Tomas 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
Abstract excerpt
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in...
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