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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
Zhu, Gaofeng; Badonyi, Mihaly; Franklin, Lina; Seabra, Luis; Rice, Gillian I; Deleuze, Jean-François; El-Chehadeh, Salima; Anheim, Mathieu; de Saint-Martin, Anne; Pellegrini, Sandra; Marsh, Joseph A; Crow, Yanick J; El-Daher, Marie-Therese.
Affiliation
  • Zhu G; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.
  • Badonyi M; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.
  • Franklin L; Cytokine Signalling Unit, Institut Pasteur, Paris, France.
  • Seabra L; Institut Imagine, Paris, France.
  • Rice GI; Division of Evolution, Infection and Genomics, The University of Manchester, Manchester, UK.
  • Anne-Boland-Auge; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France.
  • Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France.
  • El-Chehadeh S; Institut de Génétique Médicale d'Alsace, Strasbourg, France.
  • Anheim M; Service de Neurologie, Centre de Référence Des Maladies Neurogénétiques Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • de Saint-Martin A; Fédération de Médecine Translationnelle de Médecine de Strasbourg, Strasbourg, France.
  • Pellegrini S; Institut de Génétique Et de Biologie Moléculaire Et Cellulaire, UMR7104, INSERM-U964/CNRS, Université de Strasbourg, Illkirch, France.
  • Marsh JA; Unité de Neurologie Pédiatrique, Centre de Référence Des Epilepsies Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Crow YJ; UMR 7104 INSERM U1258, IGBMC-CNRS, Strasbourg, France.
  • El-Daher MT; Cytokine Signalling Unit, Institut Pasteur, Paris, France.
J Clin Immunol ; 43(4): 808-818, 2023 05.
Article in En | MEDLINE | ID: mdl-36753016
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Interferon Type I Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Clin Immunol Year: 2023 Document type: Article Affiliation country: Reino Unido Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Interferon Type I Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Clin Immunol Year: 2023 Document type: Article Affiliation country: Reino Unido Country of publication: Países Bajos