Research Interests

In our laboratory, we study the pathophysiology and immunology of a knock-out mouse model of human hyper-immunoglobulinemia D syndrome (HIDS) and the more severe disease form, mevalonic aciduria (MA). Both are caused by mutations in the mevalonate kinase gene, which encodes the enzyme that is active at the second step in the cholesterol and nonsterol isoprenoid biosynthetic pathway (the mevalonate pathway). Like human patients, our mouse model displays significant immune dysfunction leading to auto-inflammation that is related to cell signaling pathways involving several cellular receptors that modulate inflammatory responses. We are currently exploring possible mechanistic links between cholesterol metabolism, lipid disorders, and inflammation.