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Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
Nguyen T, Lau A, Bier J, Cooke KC, Lenthall H, Ruiz-Diaz S, Avery DT, Brigden H, Zahra D, Sewell WA, Droney L, Okada S, Asano T, Abolhassani H, Chavoshzadeh Z, Abraham RS, Rajapakse N, Klee EW, Church JA, Williams A, Wong M, Burkhart C, Uzel G, Croucher DR, James DE, Ma CS, Brink R, Tangye SG, Deenick EK. Nguyen T, et al. Among authors: burkhart c. J Exp Med. 2023 Jun 5;220(6):e20221020. doi: 10.1084/jem.20221020. Epub 2023 Mar 21. J Exp Med. 2023. PMID: 36943234 Free PMC article.
Germline-activating mutations in PIK3CD compromise B cell development and function.
Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG. Avery DT, et al. Among authors: burkhart c. J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17. J Exp Med. 2018. PMID: 30018075 Free PMC article.
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C. Rao VK, et al. Among authors: burkhart c. Blood. 2017 Nov 23;130(21):2307-2316. doi: 10.1182/blood-2017-08-801191. Epub 2017 Sep 29. Blood. 2017. PMID: 28972011 Free PMC article.
Discovery of novel pyrrolidineoxy-substituted heteroaromatics as potent and selective PI3K delta inhibitors with improved physicochemical properties.
Hoegenauer K, Soldermann N, Hebach C, Hollingworth GJ, Lewis I, von Matt A, Smith AB, Wolf RM, Wilcken R, Haasen D, Burkhart C, Zécri F. Hoegenauer K, et al. Among authors: burkhart c. Bioorg Med Chem Lett. 2016 Dec 1;26(23):5657-5662. doi: 10.1016/j.bmcl.2016.10.069. Epub 2016 Oct 27. Bioorg Med Chem Lett. 2016. PMID: 27816514
Deficiency of MALT1 paracaspase activity results in unbalanced regulatory and effector T and B cell responses leading to multiorgan inflammation.
Bornancin F, Renner F, Touil R, Sic H, Kolb Y, Touil-Allaoui I, Rush JS, Smith PA, Bigaud M, Junker-Walker U, Burkhart C, Dawson J, Niwa S, Katopodis A, Nuesslein-Hildesheim B, Weckbecker G, Zenke G, Kinzel B, Traggiai E, Brenner D, Brüstle A, St Paul M, Zamurovic N, McCoy KD, Rolink A, Régnier CH, Mak TW, Ohashi PS, Patel DD, Calzascia T. Bornancin F, et al. Among authors: burkhart c. J Immunol. 2015 Apr 15;194(8):3723-34. doi: 10.4049/jimmunol.1402254. Epub 2015 Mar 11. J Immunol. 2015. PMID: 25762782
373 results