title: A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab.
abstract: Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, no MVK mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the MVK gene. The method of MVK mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients' quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed.
authors.affiliation: Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children's Hospital "Aghia Sophia", University of Athens, 115 27 Athens, Greece.
authors.forename: Elena
authors.initials: E
authors.lastname: Tsitsami
authors.forename: Charis
authors.initials: C
authors.lastname: Papadopoulou
authors.forename: Matthaios
authors.initials: M
authors.lastname: Speletas