WHIM syndrome is a rare immunodeficiency causing hypogammaglobulinemia, neutropenia and predisposition to warts. Affected individuals have been found to carry truncating mutations in the tail domain of the CXCR4 chemokine receptor. The pathogenesis of the disease appears to involve both a neutrophil trafficking defect as well as a defect in lymphocyte function. While the nature of the susceptibility to HPV is poorly understood, additional study should provide insight into the role of the receptor in the host response to infection by HPV, a cause of significant human morbidity. Studies currently underway include the characterization of a mouse model expressing mutant CXCR4 in selected hematopoietic tissues, genetic studies with functional candidate genes in families with the WHIM syndrome phenotype without mutations in CXCR4, and biochemical characterization of the signaling perturbations in disease cells carrying CXCR4 truncations.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Diaz has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Diaz has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
