Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

Haematologica. 2020 Oct 1;105(10):e488. doi: 10.3324/haematol.2019.231399.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Class Ib Phosphatidylinositol 3-Kinase
  • Germ Cells
  • Germ-Line Mutation
  • Humans
  • Immunologic Deficiency Syndromes* / genetics


  • Class Ib Phosphatidylinositol 3-Kinase
  • PIK3CG protein, human

Grant support

Funding: this work was funded by the European Research Council (ERC Consolidator Grant 820074 to KB) and the Vienna Science and Technology Fund (WWTF-LS16-060 to KB and LD). MT was supported by the Cell Communication in Health and Disease programme (CCHD, Medical University of Vienna) and a DOC fellowship of the Austrian Academy of Sciences (ÖAW 25225). BH was supported by the Austrian Science Fund FWF Hertha Firnberg program (T934-B30). SE and MG were supported by the Deutsche Forschungsgemeinschaft SFB1160 (TPA01).