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Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.
Thian, Marini; Hoeger, Birgit; Kamnev, Anton; Poyer, Fiona; Köstel Bal, Sevgi; Caldera, Michael; Jiménez-Heredia, Raúl; Huemer, Jakob; Pickl, Winfried F; Groß, Miriam; Ehl, Stephan; Lucas, Carrie L; Menche, Jörg; Hutter, Caroline; Attarbaschi, Andishe; Dupré, Loïc; Boztug, Kaan.
Afiliação
  • Thian M; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Hoeger B; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Kamnev A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Poyer F; St. Anna Children Hospital, Vienna, Austria.
  • Köstel Bal S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Caldera M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Jiménez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Huemer J; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Pickl WF; Medical University of Vienna, Vienna, Austria.
  • Groß M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Freiburg, Germany.
  • Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Freiburg, Germany.
  • Lucas CL; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.
  • Menche J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Hutter C; St. Anna Children Cancer Research Institute, Vienna, Austria.
  • Attarbaschi A; St. Anna Children Hospital, Vienna, Austria.
  • Dupré L; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Haematologica ; 105(10): e488, 2020 10 01.
Article em En | MEDLINE | ID: mdl-33054089
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes de Imunodeficiência Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes de Imunodeficiência Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria