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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
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Rice, Gillian I. (University of Manchester) ;
Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ;
Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ;
Eyck, Lien Van (Institut Imagine (Paris, França)) ;
Seabra, Luis (Institut Imagine (Paris, França)) ;
Barrea, Christophe (Université de Liège) ;
Battini, Roberta (IRCCS Fondazione Stella Maris) ;
Belot, Alexandre (Université de Lyon) ;
Berg, Stefan (The Queen Silvia Children's Hospital) ;
de Villemeur, Thierry Billette (Sorbonne Université) ;
Bley, Annette E. (University Children's Hospital) ;
Blumkin, Lubov (Tel-Aviv University) ;
Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ;
Briggs, Tracy A. (St Mary's Hospital) ;
Brimble, Elise (Stanford University School of Medicine) ;
Dale, Russell C.. (University of Sydney) ;
Darin, Niklas (The Queen Silvia Children's Hospital) ;
Debray, François-Guillaume (Université de Liège) ;
De Giorgis, Valentina (IRCCS Mondino Foundation) ;
Denecke, Jonas (University Medical Center Hamburg Eppendorf) ;
Doummar, Diane (Hôpital Armand Trousseau (París, França)) ;
Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ;
Eleftheriou, Despina (University College London (UCL)) ;
Estienne, Margherita (Istituto Neurologico Carlo Besta) ;
Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ;
Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ;
Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ;
Hartog, Nicholas (Michigan State University College of Human Medicine) ;
Harvengt, Julie (University of Liège. Department of Medical Genetics) ;
Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ;
Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ;
Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ;
Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ;
Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ;
Marti, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ;
Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ;
Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ;
Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ;
Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ;
Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ;
Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ;
Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ;
Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ;
Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ;
Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe (València)) ;
Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ;
Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ;
Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ;
Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ;
Zuberi, Sameer M. (University of Glasgow. School of Medicine) ;
Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ;
Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ;
Universitat Autònoma de Barcelona
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. [...]
2020 -  10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849
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