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 …
cellular processes, including growth, metabolism, differentiation, proliferation, motility, and …
Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives
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 …
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 …
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 …
(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 …
introduced to accommodate the many and varied antibody deficiencies being identified in …
Respiratory manifestations of the activated phosphoinositide 3-kinase delta syndrome
The activated phosphoinositide 3-kinase δ syndrome (APDS), also known as p110δ-
activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency …
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 …
immunodeficiency (PID) caused by heterozygous gain of function mutations in PI3Kδ …
Inborn errors of immunity with immune dysregulation: from bench to bedside
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging
from increased susceptibility to infections to significant immune dysregulation, often leading …
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
Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined
immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic …
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
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 …
by gene defects in several different immune pathways, such as regulatory T cell function …