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Autosomal recessive hyper IgE syndrome


Other Names for this Disease

  • AR hyperimmunoglobulin E syndrome
  • AR-HIES
  • DOCK8 deficiency
  • HIES autosomal recessive
  • Hyper Ig E syndrome, autosomal recessive
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Overview

Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far.[1]

In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES.[1] AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.[1][2]

Last updated: 1/14/2014

References

  1. Woellner C & Grimbacher B. Autosomal recessive hyper IgE syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169446. Accessed 1/14/2014.
  2. Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive. Online Mendelian Inheritance of Man (OMIM). June 21, 2013; http://omim.org/entry/243700. Accessed 1/14/2014.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a 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 Autosomal recessive hyper IgE syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AR hyperimmunoglobulin E syndrome
  • AR-HIES
  • DOCK8 deficiency
  • HIES autosomal recessive
  • Hyper Ig E syndrome, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.