What is hyperimmunoglobulin D syndrome (HIDS) and what causes it?
- • Autoinflammatory syndrome caused by autosomal recessive mutations in the MVK gene on chromosome 12 (encodes mevalonate kinase, an enzyme involved in the cholesterol synthesis pathway), causing reduced enzyme levels.
- • Ultimately, the mutations result in increased production of proinflammatory cytokines, including IL-1β, from mononuclear cells.
