Immunological cells and functions in Gaucher disease.

Publication Type:



Critical reviews in oncogenesis, Volume 18, Issue 3, p.197-220 (2013)


Animalsdigestive disease, digestive deseases Cytokinesdigestive disease, digestive deseases Dendritic Cellsdigestive disease, digestive deseases Gaucher Diseasedigestive disease, digestive deseases Humansdigestive disease, digestive deseases Macrophagesdigestive disease, digestive deseases Monocytesdigestive disease, digestive deseases Neutrophilsdigestive disease, digestive deseases Nitric Oxidedigestive disease, digestive deseases Reactive Oxygen Species


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.