Autosomal Recessive Hyper IgE Syndrome
National Organization for Rare Disorders, Inc.
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.
- HIE syndrome
- hyperimmunoglobulin E recurrent infection syndrome
- Job syndrome, autosomal recessive
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.
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.
Canadian Immunodeficiencies Patient Organization
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European Society for Immunodeficiencies
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Immune Deficiency Foundation
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International Patient Organization for Primary Immunodeficiencies
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March of Dimes Birth Defects Foundation
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Last Updated: 12/17/1969
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