1041-NK Cell Dysfunction and Cytokine Dysregulation in MKD

Paper Talk · May 28, 2026 · 23m

This research examines how mevalonate kinase deficiency (MKD), a rare autoinflammatory disorder, causes severe immune system disruptions in both humans and mice. The study identifies a critical cell-intrinsic defect where a lack of protein prenylation leads to a significant reduction in mature natural killer (NK) cells. These defective cells exhibit impaired granule trafficking and reduced cytotoxicity, which prevents the body from effectively clearing viral infections. Paradoxically, this cellular dysfunction triggers an overproduction of interferon gamma (IFN-γ) and other inflammatory…