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 …
The role of dysregulated PI3Kdelta signaling in human autoimmunity
J Bier, EK Deenick - Immunological Reviews, 2022 - Wiley Online Library
Better treatment of autoimmune diseases requires an improved understanding of the cellular
and molecular mechanisms that lead to the breakdown of immune tolerance. The discovery …
and molecular mechanisms that lead to the breakdown of immune tolerance. The discovery …
[HTML][HTML] An open label trial of nemiralisib, an inhaled PI3 kinase delta inhibitor for the treatment of activated PI3 kinase delta syndrome
M Begg, A Amour, E Jarvis, T Tang, SS Franco… - Pulmonary …, 2023 - Elsevier
Abstract Activated PI3Kδ Syndrome (APDS) is a rare inherited inborn error of immunity
caused by mutations that constitutively activate the p110 delta isoform of phosphoinositide 3 …
caused by mutations that constitutively activate the p110 delta isoform of phosphoinositide 3 …
Case report: EBV chronic infection and lymphoproliferation in four APDS patients: the challenge of proper characterization, therapy, and follow-up
B Rivalta, D Amodio, C Milito, M Chiriaco… - Frontiers in …, 2021 - frontiersin.org
Activated PI3K-kinase Delta Syndrome (APDS) is an autosomal-dominant primary
immunodeficiency (PID) caused by the constitutive activation of the PI3Kδ kinase. The …
immunodeficiency (PID) caused by the constitutive activation of the PI3Kδ kinase. The …
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae
S Elworthy, HA Rutherford… - Disease Models & …, 2023 - journals.biologists.com
People with activated PI3 kinase delta syndrome 1 (APDS1) suffer from immune deficiency
and severe bronchiectasis. APDS1 is caused by dominant activating mutations of the …
and severe bronchiectasis. APDS1 is caused by dominant activating mutations of the …
Pharmacology of Berberine and its Metabolites, is it the natures Ozempic or Imatinib?
NK Singh, M Dhanasekaran, AHS Kumar - bioRxiv, 2023 - biorxiv.org
Background: Berberine, which is a naturally occurring alkaloid is widely explored for several
health benefits including for weight management and metabolic disorders. The major …
health benefits including for weight management and metabolic disorders. The major …
Initial sirolimus dosage recommendations for pediatric patients with PIK3CD mutation-related immunodeficiency disease
X Chen, J Wang, J Lan, X Ge, H Xu… - Frontiers in …, 2022 - frontiersin.org
Sirolimus is used to treat pediatric patients with PIK3CD mutation-related immunodeficiency
disease. However, the initial dosages of sirolimus remain undecided. The present study …
disease. However, the initial dosages of sirolimus remain undecided. The present study …
[HTML][HTML] Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome
MMCM Drissen, JR Vos, EC Camps… - European Journal of …, 2024 - Elsevier
There are indications for immune dysregulation in PTEN Hamartoma Tumour Syndrome
(PHTS), however information on the clinical immune phenotype is lacking. We aimed to …
(PHTS), however information on the clinical immune phenotype is lacking. We aimed to …
磷脂酰肌醇3 激酶δ 过度活化综合征治疗进展
吴涛， 刘文慧 - 内科理论与实践, 2024 - qk.sjtu.edu.cn
磷脂酰肌醇3 激酶δ (phosphoinositide 3-kinase δ, PI3Kδ) 过度活化综合征(activated
phosphoinositide 3-kinase δ syndrome, APDS) 于2013 年首次报道. APDS 是一种PIK3CD …
phosphoinositide 3-kinase δ syndrome, APDS) 于2013 年首次报道. APDS 是一种PIK3CD …
Case report: Successful treatment with monoclonal antibodies in one APDS patient with prolonged SARS-CoV-2 infection not responsive to previous lines of treatment
B Rivalta, D Amodio, C Giancotta, V Santilli… - Frontiers in …, 2022 - frontiersin.org
We described the case of a patient affected by activated PI3K-kinase delta syndrome
(APDS) and a long-lasting and pauci-symptomatic SARS-CoV-2 infection, treated with …
(APDS) and a long-lasting and pauci-symptomatic SARS-CoV-2 infection, treated with …