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- W2000557210 abstract "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." @default.
- W2000557210 created "2016-06-24" @default.
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- W2000557210 date "2013-09-20" @default.
- W2000557210 modified "2023-10-18" @default.
- W2000557210 title "Genetics on a WHIM" @default.
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- W2000557210 doi "https://doi.org/10.1111/bjh.12574" @default.
- W2000557210 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3961560" @default.
- W2000557210 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24111611" @default.
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