pediatrics
Hyper IgD Syndrome
Introduction
Hyper-IgD syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. Episodes usually last 4 to 6 days and may be triggered by physiologic stress, such as vaccination or minor trauma. Diagnosis is mainly clinical but includes serum IgD level and possibly genetic testing. Attacks can be prevented with interleukin-1 inhibitors (anakinraorcanakinumab). Symptoms can be treated with nonsteroidal anti-inflammatory drugs, corticosteroids, andanakinra. Hyper-IgD syndrome clusters in children of Dutch, French, and other Northern European ancestry and is caused by Mutations in the gene coding mevalonate kinase, an enzyme important for cholesterol synthesis ( General reference ) Reduction in the synthesis of anti-inflammatory isoprenylated proteins may account for the clinical syndrome. 