Plerixafor for the Treatment of WHIM Syndrome
نویسندگان
چکیده
منابع مشابه
The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome.
Mutations in CXCR4 cause severe leukopenia in myelokathexis or WHIM syndrome. Plerixafor inhibits binding of CXCR4 to its ligand CXCL12. We investigated the effects of plerixafor (0.04 to 0.24 mg/kg) administered at 2-4 day intervals in 6 patients. Outcome measures were the patients' complete blood cell counts, CD34(+) cell counts and lymphocyte subtypes compared with 5 normal subjects similarl...
متن کاملA phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder caused by gain-of-function mutations in the G protein-coupled chemokine receptor CXCR4. The CXCR4 antagonist plerixafor, which is approved by the US Food and Drug Administration (FDA) for stem cell mobilization in cancer and administered for that indication at 0.24 mg/kg, has been sho...
متن کاملThe CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome.
WHIM syndrome is a rare congenital immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (neutropenia because of impaired egress from the BM); most patients also have severe panleukopenia. Because WHIM syndrome is caused by mutations in the chemokine receptor CXCR4 that result in increased agonist-dependent signaling, we hypothesized that the CXC...
متن کاملChromothriptic Cure of WHIM Syndrome
Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused by gain-of-function mutation of the chemokine receptor CXCR4. In this patient, deletion of the ...
متن کاملRegular Article CLINICAL TRIALS AND OBSERVATIONS A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor
David H. McDermott, Qian Liu, Daniel Velez, Lizbeeth Lopez, Sandra Anaya-O’Brien, Jean Ulrick, Nana Kwatemaa, Judy Starling, Thomas A. Fleisher, Debra A. Long Priel, Melissa A. Merideth, Robert L. Giuntoli, Moses O. Evbuomwan, Patricia Littel, Martha M. Marquesen, Dianne Hilligoss, Rosamma DeCastro, George J. Grimes, Samuel T. Hwang, Stefania Pittaluga, Katherine R. Calvo, Pamela Stratton, Edwa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2019
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1808575