Marie-Céline Deau

TL;DR: The results suggest that PI3K activity is tightly regulated in T and B lymphocytes and that various defects in thePI3K-triggered pathway can cause primary immunodeficiencies.

TL;DR: Three unrelated patients with novel heterozygous mutations in PIK3CD located in the ABD and the ABd-RBD linker region of p110δ as cause for APDS1 are reported, and two gain-of-function mutations thus affect domains not previously shown to be important in the increased p 110δ activity characteristic of this syndrome.

TL;DR: APDS2 is a combined immunodeficiency with a variable clinical phenotype and Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD.

TL;DR: Kosin University College of Medicine, Kosin University Gospel Hospital, Busan, Division of Haematology and Cellular Therapy, Ulsan University Hospital, University of ULSan College of medicine, and The Catholic University of Korea, Seoul, Korea are represented in this study.

TL;DR: In this paper, the authors show that the transcription factor Helios is highly expressed in murine hematopoietic stem and progenitor cells (HSPCs), where it is required to suppress the separation of the platelet/megakaryocyte lineage from the HSPC pool.