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Critical Reviews™ in Oncogenesis
SJR: 0.946 SNIP: 0.503 CiteScore™: 2

ISSN Imprimir: 0893-9675
ISSN On-line: 2162-6448

Critical Reviews™ in Oncogenesis

DOI: 10.1615/CritRevOncog.2013004503
pages 197-220

Immunological Cells and Functions in Gaucher Disease

Manoj Kumar Pandey
Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, Ohio 45229, USA
Gregory A. Grabowski
Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, Ohio 45229, USA

RESUMO

The macrophage (MΦ) has been the focus of causality, research, and therapy of Gaucher disease, but recent evidence casts doubt its solitary role in the disease pathogenesis. The excess of glucosylceramide (GC) in such cells accounts for some of the disease manifestations. Evidence of increased expression of C-C and C-X-C chemokines (i.e., CCL2,CXCL1, CXCL8) in Gaucher disease could be critical for monocyte transformation to inflammatory subsets of macrophages and dendritic cells (DC) as well as neutrophil (PMNs) recruitment to visceral organs. These immune responses could be essential for activation of T- and B-cell subsets, and the induction of numerous cytokines and chemokines that participate in the initiation and propagation of the molecular pathogenesis of Gaucher disease. The association of Gaucher disease with a variety of cellular and humoral immune responses is reviewed here to provide a potential foundation for expanding the complex pathophysiology of Gaucher disease.


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