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 …
heterozygous gain-of-function (GOF) mutation in PIK3CD, which encodes the leukocyte …
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
T Nguyen, A Lau, J Bier, KC Cooke… - Journal of Experimental …, 2023 - rupress.org
Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-
kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …
kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …
Analysing the cellular mechanisms underlying activated PI3K δ Syndrome (APDS) reveals differences between APDS1 and APDS2
APDS is a primary immunodeficiency condition caused by heterozygous gain-of-function
mutations in PIK3CD (APDS1), which encodes the leukocyte-restricted p110-δ catalytic …
mutations in PIK3CD (APDS1), which encodes the leukocyte-restricted p110-δ catalytic …
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 …
gain of function mutations in PIK3CD, which encodes the leukocyte-restricted p110δ …
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells
J Bier, G Rao, K Payne, H Brigden, E French… - Journal of Allergy and …, 2019 - Elsevier
Background Gain-of-function (GOF) mutations in PIK3CD cause a primary immunodeficiency
characterized by recurrent respiratory tract infections, susceptibility to herpesvirus infections …
characterized by recurrent respiratory tract infections, susceptibility to herpesvirus infections …
[PDF][PDF] Novel mutation in PIK3CD affecting the Ras-binding domain
ABSTRACT Introduction: The phosphoinositide 3-kinase (PI3K) pathway plays critical roles
in diverse cellular processes, including differentiation, proliferation, motility, survival, and …
in diverse cellular processes, including differentiation, proliferation, motility, survival, and …
Novel mutation in PIK3CD affecting the Ras-binding domain
Introduction: The phosphoinositide 3-kinase (PI3K) pathway plays critical roles in diverse
cellular processes, including differentiation, proliferation, motility, survival, and growth …
cellular processes, including differentiation, proliferation, motility, survival, and growth …
Hyperactive PI3Kδ predisposes naive T cells to activation via aerobic glycolysis programs
Y Jia, Q Yang, Y Wang, W Li, X Chen, T Xu… - Cellular & Molecular …, 2021 - nature.com
Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal-dominant
combined immunodeficiency disorder resulting from pathogenic gain-of-function (GOF) …
combined immunodeficiency disorder resulting from pathogenic gain-of-function (GOF) …
T cell extrinsic mechanics explaining the T cell hyperactivation seen in Activated PI3K δ Syndrome
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 …
gain of function mutations in PIK3CD, which encodes the leukocyte-restricted p110δ …