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Primary Immune Deficiency Diseases (PIDD)

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Hyper-Immunoglobulin E Syndrome (HIES) or Job’s Syndrome

artwork of Job with boils
Folio 46r from the Syriac Bible of Paris depicting the biblical character Job suffering from boils. Credit: Wikimedia Commons

People with HIES have recurrent staphylococcal abscesses (boils) of the skin and lungs. They also have an itchy skin rash (eczema), very high levels of a type of antibody called immunoglobulin E (IgE), and a tendency to have bone fractures.

Causes

In most cases in the United States, HIES is caused by mutations in a gene that encodes a signaling molecule called STAT3. This molecule is involved in many different activities of the body, explaining why HIES affects facial appearance, bones, lungs, skin, and heart.

Read about how NIAID investigators identified that STAT3 causes HIES.

Signs and Symptoms

People with HIES may have repeated bacterial abscesses of the skin and lungs. These infections are often caused by Staphylococcus aureus, but also may be caused by fungal organisms. They also have recurrent bone fractures and severe itching and inflamed skin. They may keep their baby teeth.

People with HIES often have distinctive facial characteristics, such as the following:

  • Uneven facial features
  • Prominent forehead
  • Deep-set eyes
  • Broad nasal bridge
  • Wide, fleshy nose tip
  • Protruding lower jaw

Read about the immune cells missing in people with HIES.

Diagnosis

A doctor will suspect HIES in a person with recurrent staphylococcal abscesses and itchy skin rashes and recurring staph infections or pneumonias.

Blood tests diagnosing HIES will show normal levels of IgG, IgA, and IgM antibodies but very high levels of IgE antibodies. They also may show a high number of white blood cells called eosinophils and a poor response to immunizations.

Treatment

The most effective treatment for HIES is continuous anti-staphylococcal antibiotics and antifungals as needed.

 

Last Updated July 17, 2012

Last Reviewed October 14, 2010