2. Academic Validation
  3. Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

  • Haematologica. 2020 Oct 1;105(10):e488. doi: 10.3324/haematol.2019.231399.
Marini Thian 1,  Birgit Hoeger 1,  Anton Kamnev 1,  Fiona Poyer 2,  Sevgi Köstel Bal 1,  Michael Caldera 3,  Raúl Jiménez-Heredia 1,  Jakob Huemer 1,  Winfried F Pickl 4,  Miriam Groß 5,  Stephan Ehl 5,  Carrie L Lucas 6,  Jörg Menche 3,  Caroline Hutter 7,  Andishe Attarbaschi 2,  Loïc Dupré 1,  Kaan Boztug 1
Affiliations

Affiliations

  • 1 Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • 2 St. Anna Children Hospital, Vienna, Austria.
  • 3 CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • 4 Medical University of Vienna, Vienna, Austria.
  • 5 Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Freiburg, Germany.
  • 6 Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.
  • 7 St. Anna Children Cancer Research Institute, Vienna, Austria.
PMID: 33054089 DOI: 10.3324/haematol.2019.231399
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