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Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.
Edwards, Emily S J; Bier, Julia; Cole, Theresa S; Wong, Melanie; Hsu, Peter; Berglund, Lucinda J; Boztug, Kaan; Lau, Anthony; Gostick, Emma; Price, David A; O'Sullivan, Michael; Meyts, Isabelle; Choo, Sharon; Gray, Paul; Holland, Steven M; Deenick, Elissa K; Uzel, Gulbu; Tangye, Stuart G.
  • Edwards ESJ; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia.
  • Bier J; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia.
  • Cole TS; Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.
  • Wong M; Children's Hospital at Westmead, Westmead, Australia; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia.
  • Hsu P; Children's Hospital at Westmead, Westmead, Australia; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, Australia.
  • Berglund LJ; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia; Immunopathology Department, Westmead Hospital, Westmead, Australia; Faculty of Medicine, University of Sydney, Sydney, Australia.
  • Boztug K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, St Anna Children's Hospital and Children's Cancer Research Institute, Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, and Ludwig Boltzmann Institute for Rare and Undiagnosed Dise
  • Lau A; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia.
  • Gostick E; Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Price DA; Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff, United Kingdom; Vaccine Research Center, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Md.
  • O'Sullivan M; Perth Children's Hospital, Perth, Australia.
  • Meyts I; Department of Pediatrics, University Hospital Leuven, Leuven, Belgium; Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Leuven, Belgium.
  • Choo S; Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia; Immunology Laboratory, Laboratory Services, Royal Children's Hospital, Melbourne, Australia.
  • Gray P; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia; University of New South Wales School of Women's and Children's Health, Randwick, Australia.
  • Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Deenick EK; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia.
  • Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Tangye SG; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia. Electronic address: s.tangye@g
J Allergy Clin Immunol ; 143(1): 276-291.e6, 2019 01.
Article en En | MEDLINE | ID: mdl-29800648
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Asesinas Naturales / Diferenciación Celular / Herpesvirus Humano 4 / Linfocitos T CD8-positivos / Infecciones por Virus de Epstein-Barr / Fosfatidilinositol 3-Quinasa Clase I / Mutación con Ganancia de Función / Enfermedades Genéticas Congénitas Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Asesinas Naturales / Diferenciación Celular / Herpesvirus Humano 4 / Linfocitos T CD8-positivos / Infecciones por Virus de Epstein-Barr / Fosfatidilinositol 3-Quinasa Clase I / Mutación con Ganancia de Función / Enfermedades Genéticas Congénitas Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article