Review
Genetics on a WHIM
Omar Al Ustwani,
Razelle Kurzrock,
Meir Wetzler,
Omar Al Ustwani
Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA
Search for more papers by this authorRazelle Kurzrock
University of California, San Diego, Moores Cancer Center, San Diego, CA, USA
Search for more papers by this authorCorresponding Author
Meir Wetzler
Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA
Correspondence: Meir Wetzler, Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.
E-mail: [email protected]
Search for more papers by this authorOmar Al Ustwani,
Razelle Kurzrock,
Meir Wetzler,
Omar Al Ustwani
Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA
Search for more papers by this authorRazelle Kurzrock
University of California, San Diego, Moores Cancer Center, San Diego, CA, USA
Search for more papers by this authorCorresponding Author
Meir Wetzler
Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA
Correspondence: Meir Wetzler, Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.
E-mail: [email protected]
Search for more papers by this authorSummary
We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neutrophil retention in the bone marrow). Translational research led to the discovery that this rare immunodeficiency disease is caused by a heterozygous mutation in the CXCR4 gene. Recently, Plerixafor has been suggested as a treatment for WHIM syndrome due to its efficacy as a CXCR4 antagonist, closing the translational research loop. In this review, we will focus on the clinical manifestations, pathophysiology, diagnosis and possible therapies for this rare entity.
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