[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 …
dominant mutations that increase activity of phosphoinositide-3-kinase δ (PI3Kδ). APDS can …
[HTML][HTML] Disorders related to PI3Kδ hyperactivation: characterizing the clinical and immunological features of activated PI3-kinase delta syndromes
V Redenbaugh, T Coulter - Frontiers in Pediatrics, 2021 - frontiersin.org
Phosphoinositide-3-kinase δ (PI3Kδ) is found in immune cells and is part of the
PI3K/AKT/mTOR/S6K signalling pathway essential to cell survival, growth and differentiation …
PI3K/AKT/mTOR/S6K signalling pathway essential to cell survival, growth and differentiation …
Increased activation of PI3 kinase-δ predisposes to B-cell lymphoma
A Durandy, S Kracker - Blood, The Journal of the American …, 2020 - ashpublications.org
Abstract Activated phosphatidylinositol 3-kinase-δ (PI3K-δ) syndrome (APDS) is a rare
primary combined immunodeficiency caused by either dominant gain-of-function mutations …
primary combined immunodeficiency caused by either dominant gain-of-function mutations …
Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a novel primary
immunodeficiency (PID) caused by heterozygous gain of function mutations in PI3Kδ …
immunodeficiency (PID) caused by heterozygous gain of function mutations in PI3Kδ …
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 …
activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or …
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 …
subunits.•Recurrent infection, lymphoproliferation, and immunopathology occur in …
[HTML][HTML] An updated review on activated PI3 kinase delta syndrome (APDS)
A Singh, V Joshi, AK Jindal, B Mathew, A Rawat - Genes & Diseases, 2020 - Elsevier
Activated Phosphoinositide 3-kinase δ syndrome (APDS) is a newly recognised primary
immunodeficiency disease. It has currently been a hot topic of clinical research and new …
immunodeficiency disease. It has currently been a hot topic of clinical research and new …
Activated PI 3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature
P Olbrich, M Lorenz, P Cura Daball… - Pediatric Allergy and …, 2016 - Wiley Online Library
Background Autosomal dominant gain‐of‐function mutations in PIK 3R1 encoding for the
regulatory subunit (p85α, p55α, and p50α) of Class IA phosphoinositide 3‐kinase (PI 3K) …
regulatory subunit (p85α, p55α, and p50α) of Class IA phosphoinositide 3‐kinase (PI 3K) …
[HTML][HTML] Natural course of activated phosphoinositide 3-kinase delta syndrome in childhood and adolescence
M Bloomfield, A Klocperk, R Zachova, T Milota… - Frontiers in …, 2021 - frontiersin.org
Activated phosphoinositide 3-kinase delta syndrome (APDS), caused by mutations in PI3Kδ
catalytic p110δ (PIK3CD) or regulatory p85α (PIK3R1) subunits, is a primary …
catalytic p110δ (PIK3CD) or regulatory p85α (PIK3R1) subunits, is a primary …
[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 …
delta (PI3Kδ) cause activated PI3Kδ syndrome (APDS), a disease characterized by humoral …