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Infections in activated PI3K delta syndrome (APDS).
Brodsky NN, Lucas CL. Brodsky NN, et al. Curr Opin Immunol. 2021 Oct;72:146-157. doi: 10.1016/j.coi.2021.04.010. Epub 2021 May 27. Curr Opin Immunol. 2021. PMID: 34052541 Review.
Activated PI3K-delta Syndrome (APDS), also called PI3K-delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI), is an autosomal dominant disorder caused by inherited or de novo gain-of-function mutations in on …
Activated PI3K-delta Syndrome (APDS), also called PI3K-delta activating mutation causing senescent T cells, lymp …
T and B-cell signaling in activated PI3K delta syndrome: From immunodeficiency to autoimmunity.
Preite S, Gomez-Rodriguez J, Cannons JL, Schwartzberg PL. Preite S, et al. Immunol Rev. 2019 Sep;291(1):154-173. doi: 10.1111/imr.12790. Immunol Rev. 2019. PMID: 31402502 Review.
In this article, we discuss how studies on the human genetic disorder "Activated PI3K-delta syndrome" and mouse models of this disease (Pik3cd(E1020K/+) mice) have provided fundamental insight into pathways regulated by PI3Kdelta in T and B cells and t …
In this article, we discuss how studies on the human genetic disorder "Activated PI3K-delta syndrome" and mouse …
PI3K in T Cell Adhesion and Trafficking.
Johansen KH, Golec DP, Thomsen JH, Schwartzberg PL, Okkenhaug K. Johansen KH, et al. Front Immunol. 2021 Aug 6;12:708908. doi: 10.3389/fimmu.2021.708908. eCollection 2021. Front Immunol. 2021. PMID: 34421914 Free PMC article. Review.
PI3Kdelta, the dominant PI3K isoform in T cells, has been extensively characterised using PI3Kdelta mutant mouse models and PI3K inhibitors. Furthermore, characterisation of patients with Activated PI3K Delta Syndrome (APDS) and mouse models with hyper …
PI3Kdelta, the dominant PI3K isoform in T cells, has been extensively characterised using PI3Kdelta mutant mouse models and PI3K inhibitors. …
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Néven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacín P, Karakükcü M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA. Dimitrova D, et al. J Allergy Clin Immunol. 2022 Jan;149(1):410-421.e7. doi: 10.1016/j.jaci.2021.04.036. Epub 2021 May 24. J Allergy Clin Immunol. 2022. PMID: 34033842 Free PMC article.
Phosphoinositide 3-kinase δ (PI3Kδ) in respiratory disease.
Stokes CA, Condliffe AM. Stokes CA, et al. Biochem Soc Trans. 2018 Apr 17;46(2):361-369. doi: 10.1042/BST20170467. Epub 2018 Mar 9. Biochem Soc Trans. 2018. PMID: 29523773 Review.
We also describe the importance of PI3Kdelta in adaptive immune cell function, as highlighted by the recently described Activated PI3K Delta Syndrome, and draw attention to some of the potential clinical applications and benefits of targeting this mole …
We also describe the importance of PI3Kdelta in adaptive immune cell function, as highlighted by the recently described Activated …
Dysregulated PI3K Signaling in B Cells of CVID Patients.
Harder I, Münchhalfen M, Andrieux G, Boerries M, Grimbacher B, Eibel H, Maccari ME, Ehl S, Wienands J, Jellusova J, Warnatz K, Keller B. Harder I, et al. Cells. 2022 Jan 28;11(3):464. doi: 10.3390/cells11030464. Cells. 2022. PMID: 35159274 Free PMC article.
In contrast to CVID, increased basal activity of PI3K in patients with a gain-of-function mutation in PIK3CD and activated PI3K delta syndrome (APDS) did not result in impaired BCR-induced AKT-mTOR-S6 phosphorylation, highlighting that signaling defect …
In contrast to CVID, increased basal activity of PI3K in patients with a gain-of-function mutation in PIK3CD and activated PI3K …
Phosphatidylinositol 3-kinase signaling and immune regulation: insights into disease pathogenesis and clinical implications.
Nguyen T, Deenick EK, Tangye SG. Nguyen T, et al. Expert Rev Clin Immunol. 2021 Aug;17(8):905-914. doi: 10.1080/1744666X.2021.1945443. Epub 2021 Jun 28. Expert Rev Clin Immunol. 2021. PMID: 34157234 Review.
The subsequent identification and characterisation of >300 individuals with a novel immune dysregulatory disorder, termed activated PI3K-delta syndrome (APDS), has reinforced the status of PI3K as a key pathway regulating immune function. ...
The subsequent identification and characterisation of >300 individuals with a novel immune dysregulatory disorder, termed activated …
34 results