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Page 1
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, de Boer M, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Garcia-Morato MB, Shephard JLV, Cagdas D, Tezcan I, Sherkat R, Mortaz E, Fayezi A, Shahrooei M, Wolach B, Blancas-Galicia L, Kanegane H, Kawai T, Condino-Neto A, Vihinen M, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: zerbe cs. Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. Blood Cells Mol Dis. 2021. PMID: 34547651
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.
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: zerbe cs. 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.
95 results