Autosomal Recessive Hyper IgE Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Autosomal Recessive Hyper IgE Syndrome is not the name you expected.
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia AR-HIES is inherited as an autosomal recessive trait and the first symptoms include the development of a dry, red, flaky skin rash (eczema).
The clinical triad of AR-HIES is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections and neurological symptoms are unique to the AR-HIES form. For years, researchers considered them different expressions of the same disorder, but now researchers consider them similar, yet distinct disorders.
The first case of hyper IgE syndrome was described in the medical literature in 1966. The physicians termed the disorder Job syndrome after the biblical character of Job who was covered in boils and sores over his entire body.
Canadian Immunodeficiencies Patient Organization
- 8516 – 18 Avenue S.W.
- Edmonton, AB T6X 0R7
- Tel: 7056963679
- Fax: 8669427651
- Tel: 1-877-607-CIPO (2476)
- Email: firstname.lastname@example.org
- Website: http://www.cipo.ca
European Society for Immunodeficiencies
- 1-3 rue de Chantepoulet
- Geneva, CH 1211
- Tel: 410229080484
- Fax: 41229069140
- Email: email@example.com
- Website: http://www.esid.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Immune Deficiency Foundation
- 110 West Road
- Suite 300
- Towson, MD 21204
- Tel: (410)321-6647
- Fax: (410)321-9165
- Tel: (800)296-4433
- Email: firstname.lastname@example.org
- Website: http://www.primaryimmune.org
International Patient Organization for Primary Immunodeficiencies
- Firside Main Road
- Cornwall, PL11 3LE
- United Kingdom
- Tel: 441503250668
- Fax: 441503250961
- Email: email@example.com
- Website: http://www.ipopi.org/
Jeffrey Modell Foundation
- 780 Third Avenue
- New York, NY 10017
- Tel: (212)819-0200
- Fax: (212)764-4180
- Tel: (866)469-6474
- Email: firstname.lastname@example.org
- Website: http://www.info4pi.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or email@example.com
- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Allergy and Infectious Diseases
- NIAID Office of Communications and Government Relations
- 5601 Fishers Lane, MSC 9806
- Bethesda, MD 20892-9806
- Tel: (301)496-5717
- Fax: (301)402-3573
- Tel: (866)284-4107
- Email: firstname.lastname@example.org
- Website: http://www.niaid.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 9/6/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
PeaceHealth endeavors to provide comprehensive health care information, however some topics in this database describe services and procedures not offered by our providers or within our facilities because they do not comply with, nor are they condoned by, the ethics policies of our organization.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.