Understanding the WHIM syndrome: molecular analysis of CXCR4 functions in leukocyte trafficking and activation

The WHIM syndrome is a genetic disease caused by expression of an altered protein, the CXCR4 receptor. While some typical signs of the disease can be explained on the basis of known CXCR4 functions, the molecular mechanisms responsible for other important clinical symptoms are still unclear. New functions of the CXCR4 receptor have been recently identified in our laboratory and our results so far offer a plausible and novel mechanistic explanation for several aspects of the pathogenesis of the WHIM syndrome. Thus, we plan to confirm and expand our observations and to test the feasibility of a new therapeutic approach to the disease.