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Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
Meuwissen, Marije E C; Schot, Rachel; Buta, Sofija; Oudesluijs, Grétel; Tinschert, Sigrid; Speer, Scott D; Li, Zhi; van Unen, Leontine; Heijsman, Daphne; Goldmann, Tobias; Lequin, Maarten H; Kros, Johan M; Stam, Wendy; Hermann, Mark; Willemsen, Rob; Brouwer, Rutger W W; Van IJcken, Wilfred F J; Martin-Fernandez, Marta; de Coo, Irenaeus; Dudink, Jeroen; de Vries, Femke A T; Bertoli Avella, Aida; Prinz, Marco; Crow, Yanick J; Verheijen, Frans W; Pellegrini, Sandra; Bogunovic, Dusan; Mancini, Grazia M S.
Afiliación
  • Meuwissen ME; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Buta S; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Oudesluijs G; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Tinschert S; Medical Faculty Carl Gustav Carus, Technical University of Dresden, 01069 Dresden, Germany Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
  • Speer SD; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Li Z; Institut Pasteur, Cytokine Signaling Unit, Centre National de la Recherche Scientifique URA 1961, INSERM U 1221, 75724, Paris, France.
  • van Unen L; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Heijsman D; Department of Bioinformatics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Goldmann T; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Lequin MH; Department of Radiology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Kros JM; Department of Pathology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Stam W; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Hermann M; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Willemsen R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Brouwer RW; Erasmus Center for Biomics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Van IJcken WF; Erasmus Center for Biomics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Martin-Fernandez M; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • de Coo I; Department of Child Neurology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Dudink J; Department of Neonatology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • de Vries FA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Bertoli Avella A; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Prinz M; Institute of Neuropathology and BIOSS Center for Biological Signaling Studies, University of Freiburg, 79085 Freiburg, Germany.
  • Crow YJ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Necker Hospital, Paris Descartes University, 75015 Paris, France Manchester Centre for Genomic Medicine and Academic Health Science Centre, University of Manchester, Manchester M13 9PL, England, UK.
  • Verheijen FW; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Pellegrini S; Institut Pasteur, Cytokine Signaling Unit, Centre National de la Recherche Scientifique URA 1961, INSERM U 1221, 75724, Paris, France.
  • Bogunovic D; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029 g.mancini@eras
  • Mancini GM; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands g.mancini@erasmusmc.nl Dusan.Bogunovic@mssm.edu.
J Exp Med ; 213(7): 1163-74, 2016 06 27.
Article en En | MEDLINE | ID: mdl-27325888
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Endopeptidasas / Encéfalo / Calcinosis / Transducción de Señal / Interferón Tipo I / Microglía / Enfermedades Autoinmunes del Sistema Nervioso / Inmunidad Innata / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Exp Med Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Endopeptidasas / Encéfalo / Calcinosis / Transducción de Señal / Interferón Tipo I / Microglía / Enfermedades Autoinmunes del Sistema Nervioso / Inmunidad Innata / Malformaciones del Sistema Nervioso Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Exp Med Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos