Hyperimmunoglobulin D syndrome (HIDS)

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.

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