Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation
- Thian, Marini
- Hoeger, Birgit
- Kamnev, Anton
- Poyer, Fiona
- Bal, Sevgi Köste
- Caldera, Michael
- Jiménez-Heredia, Raú
- Huemer, Jakob
- Pickl, Winfried F.
- Groß, Miriam
- Ehl, Stephan
- Lucas, Carrie L.
- Menche, Jör
- Hutter, Caroline
- Attarbaschi, Andishe
- Dupré, Loïc
- Boztug, Kaan
Publication date
October 2020
DOI Publisher
Ferrata Storti Foundation (Haematologica)Abstract
International audienceThe PI3K-AKT-mTOR signaling axis is a critical molecular pathway in humans, regulating multiple cellular processes. Phosphatidylinositol-3-kinases (PI3K) represent key signaling hubs for signal propagation, driving cell activation, cell polarization and morphological adaptations. Studies on PI3K in human disease have highlighted PI3K-gamma (PI3Kγ) as an appealing drug target for treatment of human disorders.2 Murine PI3Kγ studies showed its importance in regulating innate immune functions and development and activation of T cells, revealing its role in controlling inflammation. However, its role in the human immune system and diseases remains to be investigated
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