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Page 1
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
Mace EM, Hsu AP, Monaco-Shawver L, Makedonas G, Rosen JB, Dropulic L, Cohen JI, Frenkel EP, Bagwell JC, Sullivan JL, Biron CA, Spalding C, Zerbe CS, Uzel G, Holland SM, Orange JS. Mace EM, et al. Among authors: spalding c. Blood. 2013 Apr 4;121(14):2669-77. doi: 10.1182/blood-2012-09-453969. Epub 2013 Jan 30. Blood. 2013. PMID: 23365458 Free PMC article.
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: spalding c. Nature. 2008 Apr 10;452(7188):773-6. doi: 10.1038/nature06764. Epub 2008 Mar 12. Nature. 2008. PMID: 18337720 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: spalding c. 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.
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: spalding c. 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. Among authors: spalding c. 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: spalding c. 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.
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: spalding c. 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.
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. Spinner MA, et al. Among authors: spalding cd. Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13. Blood. 2014. PMID: 24227816 Free PMC article.
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: spalding c. 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.
114 results