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Autosomal Recessive Hyper IgE Syndrome

Abstract

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NORD is very grateful to Bodo Grimbacher, MD, Professor of Immunology, Scientific Director, Centre of Chronic Immunodeficiency (CCI), University Medical Center, Freiburg and University of Freiburg, Germany, for assistance in the preparation of this report.

Synonyms of Autosomal Recessive Hyper IgE Syndrome

  • AR-HIES
  • HIES
  • HIE syndrome
  • hyperimmunoglobulin E recurrent infection syndrome
  • Job syndrome, autosomal recessive

Disorder Subdivisions

  • No subdivisions found.

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.

Autosomal Recessive Hyper IgE Syndrome Resources

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