Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal recessive hyper IgE syndrome


Other Names for this Disease
  • AR hyperimmunoglobulin E syndrome
  • AR-HIES
  • Autosomal recessive HIES
  • Autosomal recessive hyper-IgE syndrome
  • DOCK8 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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
  • Autosomal recessive HIES
  • Autosomal recessive hyper-IgE syndrome
  • DOCK8 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.