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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: paulson ml. 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.
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: paulson ml. 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.
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. Among authors: paulson ml. 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.
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. 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.
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.
Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, Kanno Y, Spalding C, Elloumi HZ, Paulson ML, Davis J, Hsu A, Asher AI, O'Shea J, Holland SM, Paul WE, Douek DC. Milner JD, et al. Among authors: paulson ml. Nature. 2008 Apr 10;452(7188):773-6. doi: 10.1038/nature06764. Epub 2008 Mar 12. Nature. 2008. PMID: 18337720 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. Among authors: paulson ml. 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.
14 results