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248 results

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Page 1
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.
Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS. Pillay BA, et al. Among authors: freeman af. JCI Insight. 2019 Apr 25;5(11):e127527. doi: 10.1172/jci.insight.127527. JCI Insight. 2019. PMID: 31021819 Free PMC article.
STAT3 mutations in the hyper-IgE syndrome.
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. Holland SM, et al. Among authors: freeman af. N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19. N Engl J Med. 2007. PMID: 17881745 Free article.
Combined immunodeficiency associated with DOCK8 mutations.
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Zhang Q, et al. Among authors: freeman af. N Engl J Med. 2009 Nov 19;361(21):2046-55. doi: 10.1056/NEJMoa0905506. Epub 2009 Sep 23. N Engl J Med. 2009. PMID: 19776401 Free PMC article.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Woellner C, et al. Among authors: freeman af. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059. J Allergy Clin Immunol. 2010. PMID: 20159255 Free PMC article.
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM, Uzel G, Hsu A, Milner JD, Turner ML, Pittaluga S, Freeman AF, Holland SM. Avila EM, et al. Among authors: freeman af. Pediatrics. 2010 Nov;126(5):e1248-52. doi: 10.1542/peds.2009-3171. Epub 2010 Oct 18. Pediatrics. 2010. PMID: 20956421
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.
Cutaneous manifestations of DOCK8 deficiency syndrome.
Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, Holland SM, Turner ML. Chu EY, et al. Among authors: freeman af. Arch Dermatol. 2012 Jan;148(1):79-84. doi: 10.1001/archdermatol.2011.262. Epub 2011 Sep 19. Arch Dermatol. 2012. PMID: 21931011 Free PMC article.
DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory.
Lambe T, Crawford G, Johnson AL, Crockford TL, Bouriez-Jones T, Smyth AM, Pham TH, Zhang Q, Freeman AF, Cyster JG, Su HC, Cornall RJ. Lambe T, et al. Among authors: freeman af. Eur J Immunol. 2011 Dec;41(12):3423-35. doi: 10.1002/eji.201141759. Epub 2011 Nov 10. Eur J Immunol. 2011. PMID: 21969276 Free PMC article.
248 results