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Case Reports in Rheumatology
Volume 2013, Article ID 795027, 4 pages
Case Report

A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

1Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children's Hospital “Aghia Sophia”, University of Athens, 115 27 Athens, Greece
2Department of Immunology & Histocompatibility, School of Medicine, University of Thessaly, 411 10 Biopolis, Larissa, Greece

Received 27 February 2013; Accepted 26 March 2013

Academic Editors: G. S. Alarcon, D. R. Alpert, A. Chalmers, and C. Saadeh

Copyright © 2013 Elena Tsitsami et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.