From Lysosomal Storage Diseases to NKT Cell Activation and Back
AbstractLysosomal storage diseases (LSDs) are inherited metabolic disorders characterized by the accumulation of different types of substrates in the lysosome. With a multisystemic involvement, LSDs often present a very broad clinical spectrum. In many LSDs, alterations of the immune system were described. Special emphasis was given to Natural Killer T (NKT) cells, a population of lipid-specific T cells that is activated by lipid antigens bound to CD1d (cluster of differentiation 1 d) molecules at the surface of antigen-presenting cells. These cells have important functions in cancer, infection, and autoimmunity and were altered in a variety of LSDs’ mouse models. In some cases, the observed decrease was attributed to defects in either lipid antigen availability, trafficking, processing, or loading in CD1d. Here, we review the current knowledge about NKT cells in the context of LSDs, including the alterations detected, the proposed mechanisms to explain these defects, and the relevance of these findings for disease pathology. Furthermore, the effect of enzyme replacement therapy on NKT cells is also discussed. View Full-Text
Share & Cite This Article
Pereira, C.S.; Ribeiro, H.; Macedo, M.F. From Lysosomal Storage Diseases to NKT Cell Activation and Back. Int. J. Mol. Sci. 2017, 18, 502.
Pereira CS, Ribeiro H, Macedo MF. From Lysosomal Storage Diseases to NKT Cell Activation and Back. International Journal of Molecular Sciences. 2017; 18(3):502.Chicago/Turabian Style
Pereira, Cátia S.; Ribeiro, Helena; Macedo, M. F. 2017. "From Lysosomal Storage Diseases to NKT Cell Activation and Back." Int. J. Mol. Sci. 18, no. 3: 502.
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.