Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation
Marini Thian, Birgit Hoeger, Anton Kamnev, Fiona Poyer, Sevgi Köstel Bal, Michael Caldera, Raúl Jiménez-Heredia, Jakob Huemer, Winfried F. Pickl, Miriam Groß, Stephan Ehl, Carrie L. Lucas, Jörg Menche, Caroline Hutter, Andishe Attarbaschi, Loïc Dupré, Kaan Boztug
Haematologica January 2020 : haematol.2019.231399; doi:10.3324/haematol.2019.231399

Author Affiliations

  1. Marini Thian1,
  2. Birgit Hoeger1,
  3. Anton Kamnev1,
  4. Fiona Poyer2,
  5. Sevgi Köstel Bal1,
  6. Michael Caldera3,
  7. Raúl Jiménez-Heredia1,
  8. Jakob Huemer1,
  9. Winfried F. Pickl4,
  10. Miriam Groß5,
  11. Stephan Ehl5,
  12. Carrie L. Lucas6,
  13. Jörg Menche3,
  14. Caroline Hutter7,
  15. Andishe Attarbaschi2,
  16. Loïc Dupré1 and
  17. Kaan Boztug1,*
  1. 1 Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria;
  2. 2 St. Anna Children Hospital, Vienna, Austria;
  3. 3 CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria;
  4. 4 Medical University of Vienna, Vienna, Austria;
  5. 5 Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Freiburg, Germany;
  6. 6 Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA;
  7. 7 St. Anna Children Cancer Research Institute, Vienna, Austria
  1. ↵* Corresponding author; email: kaan.boztug{at}rud.lbg.ac.at

Abstract

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  • Received July 3, 2019.
  • Accepted January 29, 2020.
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Keywords

Granulocytes, Monocytes, Macrophages
Lymphocytes
Immunodeficiencies
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