A Virginia Gulino1. 1. Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. gulinov@mail.nih.gov
Abstract
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.
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.
Authors: Toshinao Kawai; Uimook Choi; Lanise Cardwell; Suk See DeRavin; Nora Naumann; Narda L Whiting-Theobald; Gilda F Linton; Jaehyun Moon; Philip M Murphy; Harry L Malech Journal: Blood Date: 2006-08-31 Impact factor: 22.113
Authors: Qian Liu; Catherina Pan; Lizbeeth Lopez; Jiliang Gao; Daniel Velez; Sandra Anaya-O'Brien; Jean Ulrick; Patricia Littel; John S Corns; Donald T Ellenburg; Harry L Malech; Philip M Murphy; David H McDermott Journal: J Clin Immunol Date: 2016-04-08 Impact factor: 8.317
Authors: Magdalena M Dailey; Chayanendu Hait; Patrick A Holt; Jon M Maguire; Jason B Meier; M Clarke Miller; Luigi Petraccone; John O Trent Journal: Exp Mol Pathol Date: 2009-01-31 Impact factor: 3.362