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435 results

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Page 1
B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.
Matharu K, Zarember KA, Marciano BE, Kuhns DB, Spalding C, Garofalo M, Dimaggio T, Estwick T, Huang CY, Fink D, Priel DL, Fleisher TA, Holland SM, Malech HL, Gallin JI. Matharu K, et al. Among authors: garofalo m. Clin Immunol. 2013 Aug;148(2):258-64. doi: 10.1016/j.clim.2013.05.007. Epub 2013 May 22. Clin Immunol. 2013. PMID: 23773925 Free PMC article.
Unique abnormalities of CD4(+) and CD8(+) central memory cells associated with chronic graft-versus-host disease improve after extracorporeal photopheresis.
Yamashita K, Horwitz ME, Kwatemaa A, Nomicos E, Castro K, Sokolic R, Foster SF, Garofalo M, Choi U, Ryherd M, Brown MR, Leitman SF, Wayne AS, Fowler DH, Bishop MR, Childs RW, Barrett AJ, Pavletic SZ, Malech HL. Yamashita K, et al. Among authors: garofalo m. Biol Blood Marrow Transplant. 2006 Jan;12(1 Suppl 2):22-30. doi: 10.1016/j.bbmt.2005.11.004. Biol Blood Marrow Transplant. 2006. PMID: 16399598 Free article. Clinical Trial.
Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.
Kim RD, Greenberg DE, Ehrmantraut ME, Guide SV, Ding L, Shea Y, Brown MR, Chernick M, Steagall WK, Glasgow CG, Lin J, Jolley C, Sorbara L, Raffeld M, Hill S, Avila N, Sachdev V, Barnhart LA, Anderson VL, Claypool R, Hilligoss DM, Garofalo M, Fitzgerald A, Anaya-O'Brien S, Darnell D, DeCastro R, Menning HM, Ricklefs SM, Porcella SF, Olivier KN, Moss J, Holland SM. Kim RD, et al. Among authors: garofalo m. Am J Respir Crit Care Med. 2008 Nov 15;178(10):1066-74. doi: 10.1164/rccm.200805-686OC. Epub 2008 Aug 14. Am J Respir Crit Care Med. 2008. PMID: 18703788 Free PMC article.
AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome.
McDermott DH, Lopez J, Deng F, Liu Q, Ojode T, Chen H, Ulrick J, Kwatemaa N, Kelly C, Anaya-O'Brien S, Garofalo M, Marquesen M, Hilligoss D, DeCastro R, Malech HL, Murphy PM. McDermott DH, et al. Among authors: garofalo m. J Cell Mol Med. 2011 Oct;15(10):2071-81. doi: 10.1111/j.1582-4934.2010.01210.x. J Cell Mol Med. 2011. PMID: 21070597 Free PMC article.
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome.
McDermott DH, Liu Q, Ulrick J, Kwatemaa N, Anaya-O'Brien S, Penzak SR, Filho JO, Priel DA, Kelly C, Garofalo M, Littel P, Marquesen MM, Hilligoss D, Decastro R, Fleisher TA, Kuhns DB, Malech HL, Murphy PM. McDermott DH, et al. Among authors: garofalo m. Blood. 2011 Nov 3;118(18):4957-62. doi: 10.1182/blood-2011-07-368084. Epub 2011 Sep 2. Blood. 2011. PMID: 21890643 Free PMC article. Clinical Trial.
Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells.
Moir S, De Ravin SS, Santich BH, Kim JY, Posada JG, Ho J, Buckner CM, Wang W, Kardava L, Garofalo M, Marciano BE, Manischewitz J, King LR, Khurana S, Chun TW, Golding H, Fauci AS, Malech HL. Moir S, et al. Among authors: garofalo m. Blood. 2012 Dec 6;120(24):4850-8. doi: 10.1182/blood-2012-05-430959. Epub 2012 Oct 16. Blood. 2012. PMID: 23074274 Free PMC article.
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM. Hsu AP, et al. Among authors: garofalo m. J Allergy Clin Immunol. 2013 Jun;131(6):1586-93. doi: 10.1016/j.jaci.2013.02.038. Epub 2013 Apr 25. J Allergy Clin Immunol. 2013. PMID: 23623265 Free PMC article.
Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJY, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Priel DAL, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD. Sadat MA, et al. Among authors: garofalo m. N Engl J Med. 2014 Apr 24;370(17):1615-1625. doi: 10.1056/NEJMoa1302846. Epub 2014 Apr 9. N Engl J Med. 2014. PMID: 24716661 Free PMC article.
CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.
De Ravin SS, Li L, Wu X, Choi U, Allen C, Koontz S, Lee J, Theobald-Whiting N, Chu J, Garofalo M, Sweeney C, Kardava L, Moir S, Viley A, Natarajan P, Su L, Kuhns D, Zarember KA, Peshwa MV, Malech HL. De Ravin SS, et al. Among authors: garofalo m. Sci Transl Med. 2017 Jan 11;9(372):eaah3480. doi: 10.1126/scitranslmed.aah3480. Sci Transl Med. 2017. PMID: 28077679
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Kuehn HS, Niemela JE, Sreedhara K, Stoddard JL, Grossman J, Wysocki CA, de la Morena MT, Garofalo M, Inlora J, Snyder MP, Lewis DB, Stratakis CA, Fleisher TA, Rosenzweig SD. Kuehn HS, et al. Among authors: garofalo m. Blood. 2017 Sep 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4. Blood. 2017. PMID: 28778864 Free PMC article.
435 results