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Germline-activating mutations in PIK3CD compromise B cell development and function.
Avery, Danielle T; Kane, Alisa; Nguyen, Tina; Lau, Anthony; Nguyen, Akira; Lenthall, Helen; Payne, Kathryn; Shi, Wei; Brigden, Henry; French, Elise; Bier, Julia; Hermes, Jana R; Zahra, David; Sewell, William A; Butt, Danyal; Elliott, Michael; Boztug, Kaan; Meyts, Isabelle; Choo, Sharon; Hsu, Peter; Wong, Melanie; Berglund, Lucinda J; Gray, Paul; O'Sullivan, Michael; Cole, Theresa; Holland, Steven M; Ma, Cindy S; Burkhart, Christoph; Corcoran, Lynn M; Phan, Tri Giang; Brink, Robert; Uzel, Gulbu; Deenick, Elissa K; Tangye, Stuart G.
Afiliação
  • Avery DT; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Kane A; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Nguyen T; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Lau A; Department of Immunology and Allergy, Liverpool Hospital, Liverpool, New South Wales, Australia.
  • Nguyen A; South Western Sydney Clinical School, UNSW Sydney, Liverpool, New South Wales, Australia.
  • Lenthall H; Clinical Immunogenomics Research Consortia Australia (CIRCA), Sydney, New South Wales, Australia.
  • Payne K; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Shi W; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Brigden H; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • French E; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Bier J; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Hermes JR; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Zahra D; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Sewell WA; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Butt D; Molecular Immunology and Bioinformatics Divisions, Walter & Eliza Hall Institute for Medical Research, Parkville, Victoria, Australia.
  • Elliott M; University of Melbourne, Parkville, Victoria, Australia.
  • Boztug K; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Meyts I; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Choo S; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Hsu P; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Wong M; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Berglund LJ; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Gray P; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • O'Sullivan M; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Cole T; Immunology Department, SydPath, St. Vincent's Hospital, Sydney, New South Wales, Australia.
  • Holland SM; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Ma CS; St. Vincent's Clinical School, University of New South Wales (UNSW), New South Wales, Australia.
  • Burkhart C; Sydney Medical School, University of Sydney, Sydney, Australia.
  • Corcoran LM; Chris O'Brien Lifehouse Cancer Centre, Royal Prince Alfred Hospital, Sydney, Australia.
  • Phan TG; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Brink R; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Uzel G; St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Deenick EK; Department of Immunology and Microbiology, Childhood Immunology, Department of Pediatrics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
  • Tangye SG; Department of Allergy and Immunology, Royal Children's Hospital Melbourne, Victoria, Australia.
J Exp Med ; 215(8): 2073-2095, 2018 08 06.
Article em En | MEDLINE | ID: mdl-30018075

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Linfócitos B / Mutação em Linhagem Germinativa / Fosfatidilinositol 3-Quinases / Classe I de Fosfatidilinositol 3-Quinases Tipo de estudo: Prognostic_studies Limite: Animals / Child / Humans Idioma: En Revista: J Exp Med Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Linfócitos B / Mutação em Linhagem Germinativa / Fosfatidilinositol 3-Quinases / Classe I de Fosfatidilinositol 3-Quinases Tipo de estudo: Prognostic_studies Limite: Animals / Child / Humans Idioma: En Revista: J Exp Med Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália