Genetics on a WHIM. Br J Haematol 2014 Jan;164(1):15-23
Date
10/12/2013Pubmed ID
24111611Pubmed Central ID
PMC3961560DOI
10.1111/bjh.12574Scopus ID
2-s2.0-84889599822 (requires institutional sign-in at Scopus site) 38 CitationsAbstract
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 MAuthor
Razelle Kurzrock MD Center Associate Director, Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsBenzylamines
Heterocyclic Compounds
Humans
Immunologic Deficiency Syndromes
Receptors, CXCR4
Warts