T cell phenotyping of a mouse model of Activated PI3Kdelta syndrome

R Alam - 2019 - repository.cam.ac.uk
Abstract Activated PI3Kdelta Syndrome (APDS) is immunodeficiency caused by a
heterozygous gain-of-function mutation (E1021K) in the PIK3CD gene, encoding for the …

T cell dysfunction in Activated PI3K δ Syndrome explained by cell intrinsic and extrinsic components

J Bier, A Lau, RA Brink, S Ruiz-Diaz… - The Journal of …, 2021 - journals.aai.org
Abstract Activated PI3K Delta Syndrome (APDS) is a rare condition caused by heterozygous
gain of function mutations in PIK3CD, which encodes the leukocyte-restricted p110δ …

Analysing the cellular mechanisms underlying activated PI3K δ Syndrome (APDS) reveals differences between APDS1 and APDS2

E Deenick, A Lau, T Nguyen, J Bier, R Brink… - The Journal of …, 2022 - journals.aai.org
APDS is a primary immunodeficiency condition caused by heterozygous gain-of-function
mutations in PIK3CD (APDS1), which encodes the leukocyte-restricted p110-δ catalytic …

T cell extrinsic mechanics explaining the T cell hyperactivation seen in Activated PI3K δ Syndrome

J Bier, R Brink, S Tangye, EK Deenick - The Journal of Immunology, 2022 - journals.aai.org
Abstract Activated PI3K Delta Syndrome (APDS) is a rare condition caused by heterozygous
gain of function mutations in PIK3CD, which encodes the leukocyte-restricted p110δ …

Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1

GL Dornan, BD Siempelkamp… - Proceedings of the …, 2017 - National Acad Sciences
Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by
activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or …

[HTML][HTML] Activated PI3 kinase delta syndrome: from genetics to therapy

D Michalovich, S Nejentsev - Frontiers in immunology, 2018 - frontiersin.org
Activated PI3 kinase delta syndrome (APDS) is a primary immunodeficiency caused by
dominant mutations that increase activity of phosphoinositide-3-kinase δ (PI3Kδ). APDS can …

Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8+ T Cell Survival, Differentiation, and Function

JL Cannons, S Preite, SM Kapnick, G Uzel… - Frontiers in …, 2018 - frontiersin.org
Activated phosphoinositide 3-kinase delta syndrome (APDS), also known as p110 delta-
activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency …

Infections in activated PI3K delta syndrome (APDS)

NN Brodsky, CL Lucas - Current Opinion in Immunology, 2021 - Elsevier
Highlights•APDS is caused by activating mutations in PIK3CD or PIK3R1 encoding PI3Kδ
subunits.•Recurrent infection, lymphoproliferation, and immunopathology occur in …

Elucidating the impact of a Pik3cd GOF mutation on T cell development and function

J Bier Nogueira - 2020 - unsworks.unsw.edu.au
Abstract Activated PI3K Delta Syndrome 1 (APDS1) is a rare condition caused by
heterozygous gain-of-function (GOF) mutation in PIK3CD, which encodes the leukocyte …

[HTML][HTML] Exhaustion of the CD8+ T cell compartment in patients with mutations in phosphoinositide 3-kinase delta

MWJ Wentink, YM Mueller, VASH Dalm… - Frontiers in …, 2018 - frontiersin.org
Pathogenic gain-of-function mutations in the gene encoding phosphoinositide 3-kinase
delta (PI3Kδ) cause activated PI3Kδ syndrome (APDS), a disease characterized by humoral …