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Distinct mutations at the same positions of STAT3 cause either loss or gain of function.
Chandrasekaran P, Zimmerman O, Paulson M, Sampaio EP, Freeman AF, Sowerwine KJ, Hurt D, Alcántara-Montiel JC, Hsu AP, Holland SM. Chandrasekaran P, et al. Among authors: sampaio ep. J Allergy Clin Immunol. 2016 Oct;138(4):1222-1224.e2. doi: 10.1016/j.jaci.2016.05.007. Epub 2016 May 24. J Allergy Clin Immunol. 2016. PMID: 27345172 Free PMC article. No abstract available.
Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.
Kumar N, Hanks ME, Chandrasekaran P, Davis BC, Hsu AP, Van Wagoner NJ, Merlin JS, Spalding C, La Hoz RM, Holland SM, Zerbe CS, Sampaio EP. Kumar N, et al. Among authors: sampaio ep. J Allergy Clin Immunol. 2014 Jul;134(1):236-9. doi: 10.1016/j.jaci.2014.02.037. Epub 2014 Apr 4. J Allergy Clin Immunol. 2014. PMID: 24709374 Free PMC article.
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.
Sampaio EP, Ding L, Rose SR, Cruz P, Hsu AP, Kashyap A, Rosen LB, Smelkinson M, Tavella TA, Ferre EMN, Wierman MK, Zerbe CS, Lionakis MS, Holland SM. Sampaio EP, et al. J Allergy Clin Immunol. 2018 May;141(5):1844-1853.e2. doi: 10.1016/j.jaci.2017.07.027. Epub 2017 Aug 30. J Allergy Clin Immunol. 2018. PMID: 28859974 Free PMC article.
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.
Zimmerman O, Olbrich P, Freeman AF, Rosen LB, Uzel G, Zerbe CS, Rosenzweig SD, Kuehn HS, Holmes KL, Stephany D, Ding L, Sampaio EP, Hsu AP, Holland SM. Zimmerman O, et al. Among authors: sampaio ep. Front Immunol. 2019 Jul 10;10:1433. doi: 10.3389/fimmu.2019.01433. eCollection 2019. Front Immunol. 2019. PMID: 31354696 Free PMC article.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. Among authors: sampaio ep. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Sampaio EP, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28. J Allergy Clin Immunol. 2013. PMID: 23541320 Free PMC article.
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
Zerbe CS, Marciano BE, Katial RK, Santos CB, Adamo N, Hsu AP, Hanks ME, Darnell DN, Quezado MM, Frein C, Barnhart LA, Anderson VL, Uzel G, Freeman AF, Lisco A, Nath A, Major EO, Sampaio EP, Holland SM. Zerbe CS, et al. Among authors: sampaio ep. Clin Infect Dis. 2016 Apr 15;62(8):986-94. doi: 10.1093/cid/civ1220. Epub 2016 Jan 6. Clin Infect Dis. 2016. PMID: 26743090 Free PMC article. Review.
Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.
Zimmerman O, Rösler B, Zerbe CS, Rosen LB, Hsu AP, Uzel G, Freeman AF, Sampaio EP, Rosenzweig SD, Kuehn HS, Kim T, Brooks KM, Kumar P, Wang X, Netea MG, van de Veerdonk FL, Holland SM. Zimmerman O, et al. Among authors: sampaio ep. Open Forum Infect Dis. 2017 Sep 22;4(4):ofx202. doi: 10.1093/ofid/ofx202. eCollection 2017 Fall. Open Forum Infect Dis. 2017. PMID: 29226168 Free PMC article.
A novel STAT1 mutation associated with disseminated mycobacterial disease.
Sampaio EP, Bax HI, Hsu AP, Kristosturyan E, Pechacek J, Chandrasekaran P, Paulson ML, Dias DL, Spalding C, Uzel G, Ding L, McFarland E, Holland SM. Sampaio EP, et al. J Clin Immunol. 2012 Aug;32(4):681-689. doi: 10.1007/s10875-012-9659-2. Epub 2012 Feb 29. J Clin Immunol. 2012. PMID: 22437822 Free PMC article.
Interferon alpha treatment of patients with impaired interferon gamma signaling.
Bax HI, Freeman AF, Ding L, Hsu AP, Marciano B, Kristosturyan E, Jancel T, Spalding C, Pechacek J, Olivier KN, Barnhart LA, Boris L, Frein C, Claypool RJ, Anderson V, Zerbe CS, Holland SM, Sampaio EP. Bax HI, et al. Among authors: sampaio ep. J Clin Immunol. 2013 Jul;33(5):991-1001. doi: 10.1007/s10875-013-9882-5. Epub 2013 Mar 20. J Clin Immunol. 2013. PMID: 23512243 Free PMC article.
126 results