Autosomal Recessive Hyper IgE Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Autosomal Recessive Hyper IgE Syndrome is not the name you expected.

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.

Supporting Organizations

Canadian Immunodeficiencies Patient Organization

8516 – 18 Avenue S.W.
Edmonton, AB T6X 0R7
Canada
Tel: 7056963679
Fax: 8669427651
Tel: 1-877-607-CIPO (2476)
Email: info@cipo.ca
Website: http://www.cipo.ca

European Society for Immunodeficiencies

1-3 rue de Chantepoulet
Geneva, CH 1211
Switzerland
Tel: 410229080484
Fax: 41229069140
Email: esid.admin@kenes.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: info@primaryimmune.org
Website: http://www.primaryimmune.org

International Patient Organization for Primary Immunodeficiencies

Firside Main Road
Downderry
Cornwall, PL11 3LE
United Kingdom
Tel: 441503250668
Fax: 441503250961
Email: info@ipopi.org
Website: 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
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 preguntas@nacersano.org
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: ocpostoffice@niaid.nih.gov
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.