Mechanisms of WHIM syndrome

WHIM syndrome is a genetically inherited disease that is characterized by chronic neutropenia, myelokathexis, hypogammaglobulinemia, recurrent infections and warts. The discovery of heterozygous mutations of CXCR4, a G-protein-coupled receptor that is required for normal hematopoiesis and lymphoid homeostasis, as a major cause of WHIM syndrome has revealed the pathogenesis of this rare disorder. The recent availability of drugs that inhibit CXCL12 binding to its receptor CXCR4 has provided an attractive pathogenesis-driven therapeutic option for this disease. © 2005 Elsevier Ltd. All rights reserved