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 …

Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives

R Castagnoli, OM Delmonte, E Calzoni… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the european society for immunodeficiencies-activated …

ME Maccari, H Abolhassani… - Frontiers in …, 2018 - frontiersin.org
Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal
dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary …

Effective “activated PI3Kδ syndrome”–targeted therapy with the PI3Kδ inhibitor leniolisib

VK Rao, S Webster, VASH Dalm… - Blood, The Journal …, 2017 - ashpublications.org
Pathogenic gain-of-function variants in the genes encoding phosphoinositide 3-kinase δ
(PI3Kδ) lead to accumulation of transitional B cells and senescent T cells, lymphadenopathy …

Common variable immunodeficiency: more pathways than roads to Rome

XP Peng, A Caballero-Oteyza… - Annual Review of …, 2023 - annualreviews.org
Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …

Respiratory manifestations of the activated phosphoinositide 3-kinase delta syndrome

AM Condliffe, A Chandra - Frontiers in immunology, 2018 - frontiersin.org
The activated phosphoinositide 3-kinase δ syndrome (APDS), also known as p110δ-
activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency …

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 …

Inborn errors of immunity with immune dysregulation: from bench to bedside

OM Delmonte, R Castagnoli, E Calzoni… - Frontiers in …, 2019 - frontiersin.org
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging
from increased susceptibility to infections to significant immune dysregulation, often leading …

[HTML][HTML] International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

D Dimitrova, Z Nademi, ME Maccari, S Ehl… - Journal of Allergy and …, 2022 - Elsevier
Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined
immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic …

Hematopoietic cell transplantation in patients with primary immune regulatory disorders (PIRD): a primary immune deficiency treatment consortium (PIDTC) survey

AY Chan, JW Leiding, X Liu, BR Logan… - Frontiers in …, 2020 - frontiersin.org
Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused
by gene defects in several different immune pathways, such as regulatory T cell function …