Hyper-Immunoglobulin E Syndrome (HIES) Symptoms & Diagnosis

Signs and Symptoms

People with HIES may have recurrent infections of the skin and lungs. These infections are often caused by the bacterium Staphylococcus aureus but also may be caused by other bacteria and fungi. Furthermore, people with HIES tend to have recurrent bone fractures, unusually flexible joints, and inflamed skin. Baby teeth in people with HIES often do not fall out on their own. In 2008, NIAID scientists discovered that important immune cells called Th17 cells are missing in people with HIES. In 2011, NIAID researchers also identified that an unusually low number of immune memory cells may cause people with HIES to be more susceptible to some viral infections.

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

Diagnosis

A doctor will suspect HIES in a person with eczema, recurrent boils, and pneumonias.

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

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