Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hyper IgE Syndrome, Autosomal Dominant


Synonyms of Hyper IgE Syndrome, Autosomal Dominant
  • AD-HIES
  • HIES
  • HIE Syndrome
  • Hyperimmunoglobulin E Recurrent Infection Syndrome
  • Job Syndrome, Autosomal Dominant

Disorder Subdivisions



    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. 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.

    Organizations related to Hyper IgE Syndrome, Autosomal Dominant
    • Canadian Immunodeficiencies Patient Organization
      362 Concession 12 East
      Hastings, ONT None K0L 1Y0
      Phone #: 705- 69-6 3679
      800 #: 87-7 2-62 CIPO
      e-mail: info@cipo.ca
      Home page: http://www.cipo.ca
    • European Society for Immunodeficiencies (ESID)
      c/o Dr. Esther de Vries
      Hertogenbosch None 5200 ME's
      Phone #: +31- 73--6992965
      800 #: N/A
      e-mail: info@esid.org
      Home page: http://www.esid.org
    • Immune Deficiency Foundation
      40 West Chesapeake Avenue
      Towson MD 21204
      Phone #: 410-321-6647
      800 #: 800-296-4433
      e-mail: idf@primaryimmune.org
      Home page: http://www.primaryimmune.org
    • International Patient Organization for Primary Immunodeficiencies
      Firside
      Cornwall None PL11 3LE
      Phone #: 44 -150-3 250 668
      800 #: --
      e-mail: info@ipopi.org
      Home page: http://www.ipopi.org/
    • Jeffrey Modell Foundation
      747 Third Ave
      New York NY 10017
      Phone #: 212-819-0200
      800 #: 866-469-6474
      e-mail: info@jmfworld.org
      Home page: http://www.info4pi.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Institute of Allergy and Infectious Diseases
      6610 Rockledge Drive
      Bethesda MD 20892-6612
      Phone #: 301-496-5717
      800 #: --
      e-mail: N/A
      Home page: http://www.niaid.nih.gov/
    • Primary Immunodeficiency Association (UK)
      Alliance House
      London Intl SW1H OQS
      Phone #: 020- 79-76 7640
      800 #: --
      e-mail: info@pia.org.uk
      Home page: http://www.pia.org.uk



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html