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Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.
Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu AP, Ding L, Paulson ML, Whitney AR, Sampaio EP, Frucht DM, DeLeo FR, Holland SM. Vinh DC, et al. Among authors: sampaio ep. Blood. 2010 Feb 25;115(8):1519-29. doi: 10.1182/blood-2009-03-208629. Epub 2009 Dec 29. Blood. 2010. PMID: 20040766 Free PMC article.
Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia.
Burbelo PD, Browne SK, Sampaio EP, Giaccone G, Zaman R, Kristosturyan E, Rajan A, Ding L, Ching KH, Berman A, Oliveira JB, Hsu AP, Klimavicz CM, Iadarola MJ, Holland SM. Burbelo PD, et al. Among authors: sampaio ep. Blood. 2010 Dec 2;116(23):4848-58. doi: 10.1182/blood-2010-05-286161. Epub 2010 Aug 17. Blood. 2010. PMID: 20716769 Free PMC article.
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. Hsu AP, et al. Among authors: sampaio ep. Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13. Blood. 2011. PMID: 21670465 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.
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.
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.
Adult-onset immunodeficiency in Thailand and Taiwan.
Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, Kirk JL, Jutivorakool K, Zaman R, Ding L, Hsu AP, Patel SY, Olivier KN, Lulitanond V, Mootsikapun P, Anunnatsiri S, Angkasekwinai N, Sathapatayavongs B, Hsueh PR, Shieh CC, Brown MR, Thongnoppakhun W, Claypool R, Sampaio EP, Thepthai C, Waywa D, Dacombe C, Reizes Y, Zelazny AM, Saleeb P, Rosen LB, Mo A, Iadarola M, Holland SM. Browne SK, et al. Among authors: sampaio ep. N Engl J Med. 2012 Aug 23;367(8):725-34. doi: 10.1056/NEJMoa1111160. N Engl J Med. 2012. PMID: 22913682 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.
126 results