Work

Genetics on a WHIM

Year: 2013

Type: review

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.

Source: British Journal of Haematology

DOI: 10.1111/bjh.12574

Authors: Omar Al Ustwani, Razelle Kurzrock, Meir Wetzler

Institutions: Roswell Park Comprehensive Cancer Center, University of California San Diego, Moores Cancer Center

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Cancer Institute