PI3K pathway defects leading to immunodeficiency and immune dysregulation

CJ Nunes-Santos, G Uzel, SD Rosenzweig - Journal of Allergy and Clinical …, 2019 - Elsevier
The phosphatidylinositol 3–kinase (PI3K) signaling pathway is involved in a broad range of
cellular processes, including growth, metabolism, differentiation, proliferation, motility, and …

Signaling pathways involved in the T‐cell‐mediated immunity against Epstein‐Barr virus: Lessons from genetic diseases

S Latour, A Fischer - Immunological Reviews, 2019 - Wiley Online Library
Primary immunodeficiencies (PIDs) provide researchers with unique models to understand
in vivo immune responses in general and immunity to infections in particular. In humans …

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

VK Rao, S Webster, A Šedivá, A Plebani… - Blood, The Journal …, 2023 - ashpublications.org
Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is an inborn error of
immunity with clinical manifestations including infections, lymphoproliferation, autoimmunity …

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

R Rodriguez, B Fournier, DJ Cordeiro… - Journal of Experimental …, 2019 - rupress.org
Infection of T cells by Epstein-Barr virus (EBV) causes chronic active EBV infection (CAEBV)
characterized by T cell lymphoproliferative disorders (T-LPD) of unclear etiology. Here, we …

Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology

AJ Takeda, TJ Maher, Y Zhang, SM Lanahan… - Nature …, 2019 - nature.com
Abstract Phosphatidylinositol 3-kinase-gamma (PI3Kγ) is highly expressed in leukocytes
and is an attractive drug target for immune modulation. Different experimental systems have …

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity

ESJ Edwards, J Bier, TS Cole, M Wong, P Hsu… - Journal of Allergy and …, 2019 - Elsevier
Background Germline gain-of function (GOF) mutations in PIK3CD, encoding the catalytic
p110δ subunit of phosphoinositide 3-kinase (PI3K), result in hyperactivation of the PI3K …

PI3Kδ pathway dysregulation and unique features of its inhibition by leniolisib in activated PI3Kδ syndrome and beyond

AJ Cant, A Chandra, E Munro, VK Rao… - The Journal of Allergy and …, 2024 - Elsevier
The phosphoinositide 3-kinase (PI3K) pathway regulates diverse cellular processes, with
finely tuned PI3Kδ activity being crucial for immune cell development and function. Genetic …

Activated phosphoinositide 3-kinase delta syndrome 1: clinical and immunological data from an Italian cohort of patients

G Tessarin, S Rossi, M Baronio, L Gazzurelli… - Journal of Clinical …, 2020 - mdpi.com
Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described
inborn error of immunity caused by monoallelic gain-of-function mutations in the PIK3CD …

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency

K Guevara-Hoyer, J Fuentes-Antras… - Frontiers in …, 2022 - frontiersin.org
Common variable immunodeficiency (CVID) represents the largest group of primary
immunodeficiencies that may manifest with infections, inflammation, autoimmunity, and …

[HTML][HTML] 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 …