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EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
Thomas, David C; Charbonnier, Louis-Marie; Schejtman, Andrea; Aldhekri, Hasan; Coomber, Eve L; Dufficy, Elizabeth R; Beenken, Anne E; Lee, James C; Clare, Simon; Speak, Anneliese O; Thrasher, Adrian J; Santilli, Giorgia; Al-Mousa, Hamoud; Alkuraya, Fowzan S; Chatila, Talal A; Smith, Kenneth G C.
Afiliação
  • Thomas DC; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom. Electronic address: tdct2@cam.ac.uk.
  • Charbonnier LM; Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Schejtman A; Molecular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Aldhekri H; Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Coomber EL; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
  • Dufficy ER; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.
  • Beenken AE; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.
  • Lee JC; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.
  • Clare S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
  • Speak AO; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
  • Thrasher AJ; Molecular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Santilli G; Molecular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Al-Mousa H; Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Saudi Human Genome Programme, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabi
  • Chatila TA; Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Smith KGC; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom. Electronic address: kgcs2@cam.ac.uk.
J Allergy Clin Immunol ; 143(2): 782-785.e1, 2019 02.
Article em En | MEDLINE | ID: mdl-30312704
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fagócitos / Linfócitos T / NADPH Oxidases / Linfo-Histiocitose Hemofagocítica / Doença Granulomatosa Crônica / Proteínas de Membrana Limite: Animals / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fagócitos / Linfócitos T / NADPH Oxidases / Linfo-Histiocitose Hemofagocítica / Doença Granulomatosa Crônica / Proteínas de Membrana Limite: Animals / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article