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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Pillay, Bethany A; Fusaro, Mathieu; Gray, Paul E; Statham, Aaron L; Burnett, Leslie; Bezrodnik, Liliana; Kane, Alisa; Tong, Winnie; Abdo, Chrystelle; Winter, Sarah; Chevalier, Samuel; Levy, Romain; Masson, Cécile; Schmitt, Yohann; Bole, Christine; Malphettes, Marion; Macintyre, Elizabeth; De Villartay, Jean-Pierre; Ziegler, John B; Smart, Joanne M; Peake, Jane; Aghamohammadi, Asghar; Hammarström, Lennart; Abolhassani, Hassan; Picard, Capucine; Fischer, Alain; Latour, Sylvain; Neven, Benedicte; Tangye, Stuart G; Ma, Cindy S.
Afiliação
  • Pillay BA; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Fusaro M; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW) Sydney, New South Wales, Australia.
  • Gray PE; Paris University, Imagine Institute, Université de Paris, Paris, France.
  • Statham AL; Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Burnett L; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM UMR 1163, Imagine Institut, Paris, France.
  • Bezrodnik L; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Sydney, Australia.
  • Kane A; School of Women's and Children's Health, UNSW Sydney, New South Wales, Australia.
  • Tong W; Clinical Immunogenomics Research Consortia of Australasia, Sydney, New South Wales, Australia.
  • Abdo C; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Winter S; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Chevalier S; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW) Sydney, New South Wales, Australia.
  • Levy R; Clinical Immunogenomics Research Consortia of Australasia, Sydney, New South Wales, Australia.
  • Masson C; Clinical Immunology Center and Immunology Unit, Ricardo Gutiérrez Children Hospital, Ciudad Autónoma de Buenos Aires, Argentina.
  • Schmitt Y; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Bole C; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW) Sydney, New South Wales, Australia.
  • Malphettes M; Clinical Immunogenomics Research Consortia of Australasia, Sydney, New South Wales, Australia.
  • Macintyre E; South Western Sydney Clinical School, Faculty of Medicine, UNSW Sydney, New South Wales, Australia.
  • De Villartay JP; HIV and Immunology Unit, St Vincent's Hospital, Sydney, Australia.
  • Ziegler JB; Department of Immunology, Allergy and HIV, Liverpool Hospital, Liverpool, Sydney, Australia.
  • Smart JM; Clinical Immunogenomics Research Consortia of Australasia, Sydney, New South Wales, Australia.
  • Peake J; HIV and Immunology Unit, St Vincent's Hospital, Sydney, Australia.
  • Aghamohammadi A; Biological Onco-hematology, Université de Paris, AP-HP and INEM, Paris, France.
  • Hammarström L; Paris University, Imagine Institute, Université de Paris, Paris, France.
  • Abolhassani H; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM UMR 1163, Imagine Institut, Paris, France.
  • Picard C; Pediatric Hematology and Immunology Unit, AP-HP, Paris, France.
  • Fischer A; Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Latour S; Paris University, Imagine Institute, Université de Paris, Paris, France.
  • Neven B; Pediatric Hematology and Immunology Unit, AP-HP, Paris, France.
  • Tangye SG; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
  • Ma CS; Paris University, Imagine Institute, Université de Paris, Paris, France.
J Clin Invest ; 131(3)2021 02 01.
Article em En | MEDLINE | ID: mdl-33290277
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ativação Linfocitária / Linfócitos / Diferenciação Celular / Imunodeficiência Combinada Severa / Fatores de Troca do Nucleotídeo Guanina / Memória Imunológica Tipo de estudo: Clinical_trials Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ativação Linfocitária / Linfócitos / Diferenciação Celular / Imunodeficiência Combinada Severa / Fatores de Troca do Nucleotídeo Guanina / Memória Imunológica Tipo de estudo: Clinical_trials Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article