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Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
McDermott DH, De Ravin SS, Jun HS, Liu Q, Priel DA, Noel P, Takemoto CM, Ojode T, Paul SM, Dunsmore KP, Hilligoss D, Marquesen M, Ulrick J, Kuhns DB, Chou JY, Malech HL, Murphy PM. McDermott DH, et al. Among authors: liu q. Blood. 2010 Oct 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8. Blood. 2010. PMID: 20616219 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: liu q. 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: liu q. 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.
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.
McDermott DH, Liu Q, Velez D, Lopez L, Anaya-O'Brien S, Ulrick J, Kwatemaa N, Starling J, Fleisher TA, Priel DA, Merideth MA, Giuntoli RL, Evbuomwan MO, Littel P, Marquesen MM, Hilligoss D, DeCastro R, Grimes GJ, Hwang ST, Pittaluga S, Calvo KR, Stratton P, Cowen EW, Kuhns DB, Malech HL, Murphy PM. McDermott DH, et al. Among authors: liu q. Blood. 2014 Apr 10;123(15):2308-16. doi: 10.1182/blood-2013-09-527226. Epub 2014 Feb 12. Blood. 2014. PMID: 24523241 Free PMC article. Clinical Trial.
Chromothriptic cure of WHIM syndrome.
McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, Velez D, Yim E, Bryke CR, Hsu N, Dai Z, Marquesen MM, Stregevsky E, Kwatemaa N, Theobald N, Long Priel DA, Pittaluga S, Raffeld MA, Calvo KR, Maric I, Desmond R, Holmes KL, Kuhns DB, Balabanian K, Bachelerie F, Porcella SF, Malech HL, Murphy PM. McDermott DH, et al. Among authors: liu q. Cell. 2015 Feb 12;160(4):686-699. doi: 10.1016/j.cell.2015.01.014. Epub 2015 Feb 5. Cell. 2015. PMID: 25662009 Free PMC article.
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