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Autosomal Dominant Hyper IgE Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Jos W.M. van der Meer, MD, PhD, FRCP Lon, FRCP Edin, Professor of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, for assistance in the preparation of this report.

Synonyms of Autosomal Dominant Hyper IgE Syndrome

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

Disorder Subdivisions

  • No subdivisions found.

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.

Autosomal Dominant Hyper IgE Syndrome Resources

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