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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hyper-IgD syndrome


Other Names for this Disease
  • Hyper IgD syndrome
  • Hyperimmunoglobulinemia D and periodic fever syndrome
  • Periodic fever Dutch type
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Cause


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What causes hyper IgD syndrome?

Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene.[1][2] The gene is located at chromosome 12q24.[2]
Last updated: 3/5/2013

References
  1. Shinawi M, Scaglia F. Hereditary Periodic Fever Syndromes. Medscape Reference. 2013; http://emedicine.medscape.com/article/952254-overview. Accessed 3/5/2013.
  2. Frenkel J, Simon A. Hyperimmunoglobulinemia D with recurrent fever. Orphanet. 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=343. Accessed 3/5/2013.