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Page 1
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: brigden h. 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.
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production.
Lau A, Avery DT, Jackson K, Lenthall H, Volpi S, Brigden H, Russell AJ, Bier J, Reed JH, Smart JM, Cole T, Choo S, Gray PE, Berglund LJ, Hsu P, Wong M, O'Sullivan M, Boztug K, Meyts I, Uzel G, Notarangelo LD, Brink R, Goodnow CC, Tangye SG, Deenick EK. Lau A, et al. Among authors: brigden h. J Exp Med. 2020 Feb 3;217(2):e20191336. doi: 10.1084/jem.20191336. J Exp Med. 2020. PMID: 31841125 Free PMC article.
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Bier J, et al. Among authors: brigden h. J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6. J Allergy Clin Immunol. 2019. PMID: 30738173 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: brigden h. 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.