Acid sphingomyelinase deficiency, which prevents degradation of sphingomyelin (SM), causes lysosomal SM overload both in mice and in patients with Niemann–Pick disease A or B. Altered cellular SM homeostasis disrupts the development and function of natural killer T cells by obstructing the presentation of lipid agonists by CD1d molecules.
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Joyce, S., Spiller, B.W. & Van Kaer, L. What one lipid giveth, another taketh away. Nat Immunol 20, 1559–1561 (2019). https://doi.org/10.1038/s41590-019-0525-8
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DOI: https://doi.org/10.1038/s41590-019-0525-8