Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Rheumatology
Volume 2013, Article ID 795027, 4 pages
http://dx.doi.org/10.1155/2013/795027
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.

Linked References

  1. V. Prietsch, E. Mayatepek, H. Krastel et al., “Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum,” Pediatrics, vol. 111, no. 2, pp. 258–261, 2003. View at Publisher · View at Google Scholar · View at Scopus
  2. D. Haas and G. F. Hoffmann, “Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome,” Orphanet Journal of Rare Diseases, vol. 1, article 13, 2006. View at Publisher · View at Google Scholar · View at Scopus
  3. S. M. Houten, W. Kuis, M. Duran et al., “Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome,” Nature Genetics, vol. 22, no. 2, pp. 175–177, 1999. View at Publisher · View at Google Scholar · View at Scopus
  4. J. P. H. Drenth, L. Cuisset, G. Grateau et al., “Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome,” Nature Genetics, vol. 22, no. 2, pp. 178–181, 1999. View at Publisher · View at Google Scholar · View at Scopus
  5. F. T. Saulsbury, “Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration,” Journal of Pediatrics, vol. 143, no. 1, pp. 127–129, 2003. View at Publisher · View at Google Scholar · View at Scopus
  6. W. Ammouri, L. Cuisset, S. Rouaghe et al., “Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome,” Rheumatology, vol. 46, no. 10, pp. 1597–1600, 2007. View at Publisher · View at Google Scholar · View at Scopus
  7. J. C. H. van der Hilst, E. J. Bodar, K. S. Barron et al., “Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome,” Medicine, vol. 87, no. 6, pp. 301–310, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. M. Cailliez, F. Garaix, C. Rousset-Rouvière et al., “Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis,” Journal of Inherited Metabolic Disease, vol. 29, no. 6, p. 763, 2006. View at Google Scholar · View at Scopus
  9. C. Galeotti, U. Meinzer, P. Quartier et al., “Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency,” Rheumatology, vol. 51, no. 10, pp. 1855–1859, 2012. View at Google Scholar
  10. J. P. H. Drenth and J. W. M. van der Meer, “Medical progress: hereditary periodic fever,” The New England Journal of Medicine, vol. 345, no. 24, pp. 1748–1757, 2001. View at Publisher · View at Google Scholar · View at Scopus
  11. E. J. Bodar, J. C. H. van der Hilst, W. van Heerde, J. W. M. van der Meer, J. P. H. Drenth, and A. Simon, “Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome,” Blood, vol. 109, no. 6, pp. 2416–2418, 2007. View at Publisher · View at Google Scholar · View at Scopus
  12. L. M. Kuijk, J. M. Beekman, J. Koster, H. R. Waterham, J. Frenkel, and P. J. Coffer, “HMG-CoA reductase inhibition induces IL-12 release through Rac1/PI3K/PKB-dependent caspase-1 activation,” Blood, vol. 112, no. 9, pp. 3563–3573, 2008. View at Publisher · View at Google Scholar · View at Scopus
  13. L. M. Kuijk, S. H. Mandey, I. Schellens et al., “Statin synergizes with LPS to induce IL-1β release by THP-1 cells through activation of caspase-1,” Molecular Immunology, vol. 45, no. 8, pp. 2158–2165, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. J. B. Kuemmerle-Deschner, E. Hachulla, R. Cartwright et al., “Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes,” Annals of Rheumatic Diseases, vol. 70, no. 12, pp. 2095–2102, 2011. View at Google Scholar