Autosomal Recessive Hyper IgE Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Autosomal Recessive Hyper IgE Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • AR-HIES
  • HIES
  • hyperimmunoglobulin E recurrent infection syndrome
  • Job syndrome, autosomal recessive
  • HIE syndrome

Disorder Subdivisions

  • None

General Discussion

Summary
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.

Introduction
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.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Immune Deficiency Foundation
40 W. Chesapeake Avenue
Suite 308
Towson, MD 21204
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433
Email: idf@primaryimmune.org
Internet: http://www.primaryimmune.org

NIH/National Institute of Allergy and Infectious Diseases
Office of Communications and Government Relations
6610 Rockledge Drive, MSC 6612
Bethesda, MD 20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
Tel: (866)284-4107
TDD: (800)877-8339
Email: ocpostoffice@niaid.nih.gov
Internet: http://www.niaid.nih.gov/

International Patient Organization for Primary Immunodeficiencies
Firside Main Road
Downderry
Cornwall, PL11 3LE
United Kingdom
Tel: 441503250668
Fax: 441503250961
Email: info@ipopi.org
Internet: http://www.ipopi.org/

Jeffrey Modell Foundation
780 Third Avenue
New York, NY 10017
USA
Tel: (212)819-0200
Fax: (212)764-4180
Tel: (866)469-6474
Email: info@jmfworld.org
Internet: http://www.info4pi.org

Canadian Immunodeficiencies Patient Organization
362 Concession Road 12 RR # 2
Hastings, Ontario, K0L 1Y0
Canada
Tel: 7056963679
Fax: 8669427651
Tel: 8772622476
Email: info@cipo.ca
Internet: http://www.cipo.ca

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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

European Society for Immunodeficiencies
1-3 rue de Chantepoulet
Geneva, CH 1211
Switzerland
Tel: 410229080484
Fax: 41229069140
Email: esid@kenes.com
Internet: http://www.esid.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/6/2012
Copyright  1991, 1999, 2007, 2008, 2012 National Organization for Rare Disorders, Inc.

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