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It is possible that the main title of the report Hyper IgE Syndrome, Autosomal Dominant 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.
Autosomal dominant hyper IgE syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder. Symptoms often become apparent early during infancy or childhood. The disorder is characterized by repeated bacterial infections of the skin and lungs (pneumonia), skeletal abnormalities, and characteristic facial features. The first symptom is often the development of a dry, red flaky skin rash (eczema) at birth or early during infancy.
Researchers have discovered that mutations in the STAT3 gene cause AD-HIES. Most cases of AD-HIES occur as the result of a new mutation in this gene.
There are two main forms of hyper IgE syndrome - one inherited as an autosomal dominant trait and one as an autosomal recessive trait. Both involve defects of the immune system and elevated levels of immunoglobulin E (hyper IgE) in the blood. For years, researchers considered them different expressions of the same disorder, but now researchers consider them similar, yet distinct disorders.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Immune Deficiency Foundation
40 W. Chesapeake Avenue
Towson, MD 21204
NIH/National Institute of Allergy and Infectious Diseases
Office of Communications and Government Relations
6610 Rockledge Drive, MSC 6612
Bethesda, MD 20892-6612
International Patient Organization for Primary Immunodeficiencies
Cornwall, PL11 3LE
Tel: 44 1503 250 668
Fax: 44 1503 250 668
Jeffrey Modell Foundation
780 Third Avenue
New York, NY 10017
Canadian Immunodeficiencies Patient Organization
362 Concession Road 12 RR # 2
Hastings, ONT, K0L 1Y0
Tel: 705 696 3679
Primary Immunodeficiency Association (UK)
12 Caxton Street
London, Intl SW1H OQS
Tel: +44 (0) 20 7 976 7640
Fax: +44 (0) 20 7 976 7641
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
European Society for Immunodeficiencies
1-3 rue de Chantepoulet
Geneva, CH 1211
Tel: +31 73-6992965
Fax: +41 22 906 91 40
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 email@example.com
Last Updated: 1/29/2008
Copyright 2007, 2008 National Organization for Rare Disorders, Inc.
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