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

doi:10.3324/haematol.2019.231399

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

Haematologica. 2020 Oct 1;105(10):e488. doi: 10.3324/haematol.2019.231399.

Authors

Marini Thian¹, Birgit Hoeger¹, Anton Kamnev¹, Fiona Poyer², Sevgi Köstel Bal¹, Michael Caldera³, Raúl Jiménez-Heredia¹, Jakob Huemer¹, Winfried F Pickl⁴, Miriam Groß⁵, Stephan Ehl⁵, Carrie L Lucas⁶, Jörg Menche³, Caroline Hutter⁷, Andishe Attarbaschi², Loïc Dupré¹, Kaan Boztug¹

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.

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

Substances

Class Ib Phosphatidylinositol 3-Kinase
PIK3CG protein, human

Grants and funding

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).