Purpose of review: WHIM syndrome (the association of warts, hypogammaglobulinemia, recurrent bacterial infections, and 'myelokathexis') is a rare congenital form of neutropenia associated with an unusual immune disorder involving hypogammaglonulinemia and abnormal susceptibility to warts. In this review, we describe the clinical, laboratory and genetic features of WHIM syndrome.
Recent findings: The identification of chemokine receptor CXCR4 as the causative gene of WHIM syndrome yields new interest in the study of this disease as a model for the comprehension of CXCR4 biology in humans and highlights the importance of the chemokine network for inducing effective immune responses and governing leukocyte trafficking.
Summary: CXCR4 participates in several biological processes (bone marrow hematopoiesis, cardiogenesis, angiogenesis, neurogenesis) and is implicated in different clinical pathologic conditions (WHIM, HIV infection, tumor metastatization, autoimmunity). Pharmacologic agents that modulate CXCR4 expression/function are already available and promise a wide range of future clinical applications.