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Multiomics integration of 22 immune-mediated monogenic diseases reveals an emergent axis of human immune health.
Sparks R, Rachmaninoff N, Hirsch DC, Bansal N, Lau WW, Martins AJ, Chen J, Liu CC, Cheung F, Failla LE, Biancotto A, Fantoni G, Sellers BA, Chawla DG, Howe KN, Mostaghimi D, Farmer R, Kotliarov Y, Calvo KR, Palmer C, Daub J, Foruraghi L, Kreuzburg S, Treat J, Urban AK, Jones A, Romeo T, Deuitch NT, Moura NS, Weinstein B, Moir S, Ferrucci L, Barron KS, Aksentijevich I, Kleinstein SH, Townsley DM, Young NS, Frischmeyer-Guerrerio PA, Uzel G, Pinto-Patarroyo GP, Cudrici CD, Hoffmann P, Stone DL, Ombrello AK, Freeman AF, Zerbe CS, Kastner DL, Holland SM, Tsang JS. Sparks R, et al. Among authors: zerbe cs. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2070975. doi: 10.21203/rs.3.rs-2070975/v1. Res Sq. 2023. PMID: 36993430 Free PMC article. Preprint.
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: zerbe cs. 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.
Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.
Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, Hsu AP, Zerbe CS, Calvo KR, Wilder J, Kurlander R, Olivier KN, Holland SM, Hickstein DD. Cuellar-Rodriguez J, et al. Among authors: zerbe cs. Blood. 2011 Sep 29;118(13):3715-20. doi: 10.1182/blood-2011-06-365049. Epub 2011 Aug 3. Blood. 2011. PMID: 21816832 Free PMC article. Clinical Trial.
Corticosteroid therapy for liver abscess in chronic granulomatous disease.
Leiding JW, Freeman AF, Marciano BE, Anderson VL, Uzel G, Malech HL, DeRavin S, Wilks D, Venkatesan AM, Zerbe CS, Heller T, Holland SM. Leiding JW, et al. Among authors: zerbe cs. Clin Infect Dis. 2012 Mar 1;54(5):694-700. doi: 10.1093/cid/cir896. Epub 2011 Dec 9. Clin Infect Dis. 2012. PMID: 22157170 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: zerbe cs. 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.
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.
Grossman J, Cuellar-Rodriguez J, Gea-Banacloche J, Zerbe C, Calvo K, Hughes T, Hakim F, Cole K, Parta M, Freeman A, Holland SM, Hickstein DD. Grossman J, et al. Biol Blood Marrow Transplant. 2014 Dec;20(12):1940-8. doi: 10.1016/j.bbmt.2014.08.004. Epub 2014 Aug 9. Biol Blood Marrow Transplant. 2014. PMID: 25111582 Free PMC article. Clinical Trial.
94 results