Journal of Clinical Immunology
NLRP1 Inflammasome is Associated to IL-18 in Familial Mediterranean Fever and MEFV Variants
Abstract “Familial Mediterranean Fever (FMF) (OMIM #249,100) is the most prevalent hereditary autoinflammatory disease globally, though it remains rare outside Mediterranean populations. FMF is caused by gain-of-function mutations in the MEFV gene, which encodes the immune regulatory protein pyrin. Recent studies suggest that multiple inflammasomes, including the pyrin inflammasome, may work synergistically to enhance their activity. In this study, we focused on NLRP1, and IL-18, an interleukin found at elevated le …