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248 results

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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: freeman af. 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: freeman af. 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.
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: freeman af. 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.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Zhang Y, et al. Among authors: freeman af. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24589341 Free PMC article. Clinical Trial.
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.
Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency.
Cuellar-Rodriguez J, Freeman AF, Grossman J, Su H, Parta M, Murdock H, Shah N, Bollard C, Kong HH, Moutsopoulos N, Stone K, Gea-Banacloche J, Holland SM, Hickstein DD. Cuellar-Rodriguez J, et al. Among authors: freeman af. Biol Blood Marrow Transplant. 2015 Jun;21(6):1037-45. doi: 10.1016/j.bbmt.2015.01.022. Epub 2015 Jan 27. Biol Blood Marrow Transplant. 2015. PMID: 25636378 Free PMC article. Clinical Trial.
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: freeman af. 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.
248 results