Medical College of Wisconsin
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Genetics on a WHIM. Br J Haematol 2014 Jan;164(1):15-23

Date

10/12/2013

Pubmed ID

24111611

Pubmed Central ID

PMC3961560

DOI

10.1111/bjh.12574

Scopus ID

2-s2.0-84889599822 (requires institutional sign-in at Scopus site)   38 Citations

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.

Author List

Al Ustwani O, Kurzrock R, Wetzler M

Author

Razelle Kurzrock MD Center Associate Director, Professor in the Medicine department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Animals
Benzylamines
Heterocyclic Compounds
Humans
Immunologic Deficiency Syndromes
Receptors, CXCR4
Warts