[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 …

[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 …

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 …

Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review

M Jamee, S Moniri, M Zaki-Dizaji, P Olbrich… - Clinical Reviews in …, 2020 - Springer
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a novel primary
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 …

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 …

[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 …

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) …

[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 …

[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 …