Pandey Manoj Kumar, Grabowski Gregory A
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.
Crit Rev Oncog. 2013;18(3):197-220. doi: 10.1615/critrevoncog.2013004503.
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.
巨噬细胞（MΦ）一直是戈谢病病因、研究及治疗的焦点，但近期证据对其在该疾病发病机制中的单独作用提出了质疑。此类细胞中葡糖神经酰胺（GC）过量是部分疾病表现的原因。戈谢病中C-C和C-X-C趋化因子（即CCL2、CXCL1、CXCL8）表达增加的证据，对于单核细胞转化为巨噬细胞和树突状细胞（DC）的炎性亚群以及中性粒细胞（PMN）募集至内脏器官可能至关重要。这些免疫反应对于T细胞和B细胞亚群的激活以及众多参与戈谢病分子发病机制起始和传播的细胞因子和趋化因子的诱导可能必不可少。本文综述了戈谢病与多种细胞和体液免疫反应的关联，为拓展戈谢病复杂的病理生理学提供潜在基础。
