PI3Kδ and primary immunodeficiencies

CL Lucas, A Chandra, S Nejentsev… - Nature Reviews …, 2016 - nature.com
… The PI3Kδ inhibitor idelalisib frequently causes colitis … PI3Kδ syndrome (APDS; also called
PASLI disease) is a newly described primary immunodeficiency caused by hyperactive PI3Kδ

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

M Elgizouli, DM Lowe, C Speckmann… - Clinical & …, 2016 - academic.oup.com
immunodeficiency that shares clinical features with common variable immunodeficiency (…
We screened a cohort of 669 molecularly undefined primary immunodeficiency patients for …

PI3K pathway defects leading to immunodeficiency and immune dysregulation

CJ Nunes-Santos, G Uzel, SD Rosenzweig - Journal of Allergy and Clinical …, 2019 - Elsevier
PI3Kδ enzyme complex and its regulation or dysregulation in the context of immunodeficiency
patients with a large number of primary immune deficiencies, the presence of low numbers …

T and B‐cell signaling in activated PI3K delta syndrome: From immunodeficiency to autoimmunity

S Preite, J Gomez‐Rodriguez, JL Cannons… - Immunological …, 2019 - Wiley Online Library
… of PI3Kδ, p110δ, lead to human primary immunodeficiencies. … insight into pathways regulated
by PI3Kδ in T and B cells and … We highlight critical roles of PI3Kδ in T follicular helper cells …

Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant

SB Cohen, W Bainter, JL Johnson, TY Lin… - Journal of Allergy and …, 2019 - jacionline.org
… expression of mutant PI3Kδ D853Gfs at a … PI3Kδ D853Gfs mutant copurified with His-tagged
p85α (Fig 1, E), but lacked kinase activity, as demonstrated by failure of recombinant PI3Kδ

Disorders related to PI3Kδ hyperactivation: characterizing the clinical and immunological features of activated PI3-kinase delta syndromes

V Redenbaugh, T Coulter - Frontiers in Pediatrics, 2021 - frontiersin.org
… in PTEN (terminates PI3Kδ signalling) … PI3Kδ inhibitors can be administered. In this review,
we provide an update on the clinical and laboratory features of this primary immunodeficiency

Phosphoinositide-3-kinase signaling in human natural killer cells: new insights from primary immunodeficiency

EM Mace - Frontiers in immunology, 2018 - frontiersin.org
… mutations that can cause primary immunodeficiency provides valuable insight into the role …
primary immunodeficiency patients, particularly those with hyperactivating mutations in PI3Kδ

Too much of a good thing: immunodeficiency due to hyperactive PI3K signaling

CM Walsh, DA Fruman - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
… corrected by addition of the PI3Kδ inhibitor IC87114. Furthermore, … Primary immune deficiency
diseases arise due to heritable … in primary immune deficiencies such as severe combined …

[PDF][PDF] Hyper-activated PI3K-δ in immunodeficiency

L Heurtier, MC Deau, S Kracker - Oncotarget, 2015 - oncotarget.com
… E1021K) as a cause for primary immunodeficiency [3-5]. The … PI3Kδ inhibitor IC87114
reduced the increased AICD in patient cells. In addition, patients T cell blasts treated with the PI3Kδ

[HTML][HTML] Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3 …

DJ Swan, D Aschenbrenner, CA Lamb… - …, 2019 - ncbi.nlm.nih.gov
… leukocyte subsets but mouse models of PI3Kδ deficiency imply wide-ranging impairments
of … This primary immunodeficiency thus highlights the central importance of regulated PI3Kδ