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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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Overview


Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case.[1]  Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK).[2][3] It is inherited in an autosomal recessive manner.[1][3] 
Last updated: 3/5/2013

References

  1. Hyper IgD Syndrome. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1169/viewAbstract. Accessed 3/5/2013.
  2. Shinawi M, Scaglia F. Hereditary Periodic Fever Syndromes. Medscape Reference. 2013; http://emedicine.medscape.com/article/952254-overview. Accessed 3/5/2013.
  3. Hyper-IgD Syndrome. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/260920. Accessed 3/5/2013.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyper-IgD syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles