Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8+ T Cell Survival, Differentiation, and Function
JL Cannons, S Preite, SM Kapnick, G Uzel… - Frontiers in …, 2018 - frontiersin.org
Activated phosphoinositide 3-kinase delta syndrome (APDS), also known as p110 delta-
activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency …
activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency …
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 …
activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency …
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 …
subunits.•Recurrent infection, lymphoproliferation, and immunopathology occur in …
PI3Kδ and primary immunodeficiencies
Primary immunodeficiencies are inherited disorders of the immune system, often caused by
the mutation of genes required for lymphocyte development and activation. Recently …
the mutation of genes required for lymphocyte development and activation. Recently …
Epstein–Barr Virus susceptibility in activated PI3Kδ syndrome (APDS) immunodeficiency
JM Carpier, CL Lucas - Frontiers in immunology, 2018 - frontiersin.org
Activated PI3Kδ Syndrome (APDS) is an inherited immune disorder caused by
heterozygous, gain-of-function mutations in the genes encoding the phosphoinositide 3 …
heterozygous, gain-of-function mutations in the genes encoding the phosphoinositide 3 …
[HTML][HTML] Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study
E Elkaim, B Neven, J Bruneau… - Journal of Allergy and …, 2016 - Elsevier
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating
mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI] …
mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI] …
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 …
delta (PI3Kδ) cause activated PI3Kδ syndrome (APDS), a disease characterized by humoral …
[HTML][HTML] Dominant-activating, germline mutations in phosphoinositide 3-kinase p110δ cause T cell senescence and human immunodeficiency
CL Lucas, HS Kuehn, F Zhao, JE Niemela… - Nature …, 2014 - ncbi.nlm.nih.gov
The p110δ subunit of phosphoinositide 3-kinase (PI (3) K) is selectively expressed in
leukocytes and is critical for lymphocyte biology. Here we report three different germline …
leukocytes and is critical for lymphocyte biology. Here we report three different germline …
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 …
activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or …
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 …