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Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C
European Journal of Immunology,

Speak AO et al. – The authors have found that in Niemann–Pick type C (NPC)1 patients Invariant Natural Killer T (iNKT) cells are present at normal frequencies, with no phenotypic or functional differences. In addition, antigen–presenting cells derived from NPC1 patients are functionally competent to present several different CD1 d/iNKT–cell ligands. This further supports the hypothesis that there are different trafficking requirements for the development of murine and human iNKT cells, and a functional lysosomal/late–endosomal compartment is not required for human iNKT–cell development.

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