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  • An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK.
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