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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal recessive hyper IgE syndrome


Other Names for this Disease
  • DOCK8 deficiency
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
  • HIES autosomal recessive
  • AR-HIES
  • AR hyperimmunoglobulin E syndrome
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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

  • Genetics Home Reference (GHR) contains information on Autosomal recessive hyper IgE syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • DOCK8 deficiency
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
  • HIES autosomal recessive
  • AR-HIES
  • AR hyperimmunoglobulin E syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.