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    Autosomal Dominant Hyper IgE Syndrome

    Important
    It is possible that the main title of the report Autosomal Dominant 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

    • AD-HIES
    • HIES
    • HIE syndrome
    • hyperimmunoglobulin E recurrent infection syndrome
    • Job syndrome, autosomal dominant

    Disorder Subdivisions

    • None

    General Discussion

    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 in over 60% of the patients. 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.

    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/

    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: 3/6/2012
    Copyright 2007, 2008, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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