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Hyper-IgD Syndrome

Definition

Hyper-IgD syndrome, also known as mevalonate kinase deficiency (MKD), is a rare genetic autoinflammatory disorder characterized by recurrent episodes of fever, accompanied by symptoms such as abdominal pain, joint pain, and skin rashes. It is caused by mutations in the MVK gene, which leads to a deficiency in the enzyme mevalonate kinase.