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Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
Cuchet-Lourenço, Delphine; Eletto, Davide; Wu, Changxin; Plagnol, Vincent; Papapietro, Olivier; Curtis, James; Ceron-Gutierrez, Lourdes; Bacon, Chris M; Hackett, Scott; Alsaleem, Badr; Maes, Mailis; Gaspar, Miguel; Alisaac, Ali; Goss, Emma; AlIdrissi, Eman; Siegmund, Daniela; Wajant, Harald; Kumararatne, Dinakantha; AlZahrani, Mofareh S; Arkwright, Peter D; Abinun, Mario; Doffinger, Rainer; Nejentsev, Sergey.
Afiliación
  • Cuchet-Lourenço D; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Eletto D; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Wu C; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Plagnol V; University College London Genetics Institute, University College London, London, UK.
  • Papapietro O; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Curtis J; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Ceron-Gutierrez L; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK.
  • Bacon CM; Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.
  • Hackett S; Department of Cellular Pathology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Alsaleem B; Paediatric Immunology Department, Birmingham Heartland Hospital, Birmingham, UK.
  • Maes M; Children's Hospital, King Fahad Medical City, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.
  • Gaspar M; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Alisaac A; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Goss E; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • AlIdrissi E; Faculty of Applied Medical Sciences, Albaha University, Albaha, Kingdom of Saudi Arabia.
  • Siegmund D; Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Wajant H; Children's Hospital, University of King Saud for Health Sciences, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
  • Kumararatne D; Division of Molecular Internal Medicine, Department of Internal Medicine II, University Hospital Würzburg, Würzburg, Germany.
  • AlZahrani MS; Division of Molecular Internal Medicine, Department of Internal Medicine II, University Hospital Würzburg, Würzburg, Germany.
  • Arkwright PD; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK.
  • Abinun M; Children's Hospital, University of King Saud for Health Sciences, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
  • Doffinger R; University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.
  • Nejentsev S; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
Science ; 361(6404): 810-813, 2018 08 24.
Article en En | MEDLINE | ID: mdl-30026316

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Artritis / Enfermedades Inflamatorias del Intestino / Inmunodeficiencia Combinada Grave / Proteína Serina-Treonina Quinasas de Interacción con Receptores Límite: Female / Humans / Male Idioma: En Revista: Science Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Artritis / Enfermedades Inflamatorias del Intestino / Inmunodeficiencia Combinada Grave / Proteína Serina-Treonina Quinasas de Interacción con Receptores Límite: Female / Humans / Male Idioma: En Revista: Science Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido