hyperimmunoglobulinemia D periodic fever syndrome

A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK)

A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24.

Signs and symptoms

• Elevated urine mevalonic acid level
• Elevated erythrocyte sedimentation rate
• Recurrent fever
• Skin rash
• Hepatosplenomegaly
• Increased circulating IgD concentration
• Lymphadenopathy
• Diarrhea
• Lymphadenitis
• Myalgia

Also known as: HYPER-IgD SYNDROME