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Hyper-IgE Syndrome

(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome; HIES)

By James Fernandez, MD, PhD, RJ Fasenmyer Center for Clinical Immunology

Hyper-IgE (hyperimmunoglobulinemia E) syndrome is a hereditary immunodeficiency disorder characterized by recurring boils, sinus and lung infections, and a severe rash that appear during infancy. Levels of immunoglobulin E (IgE) are very high.

  • In infants with hyper-IgE syndrome, abscesses form in the skin, joints, lungs, or other organs.

  • Blood tests can confirm the diagnosis.

  • Treatment involves giving antibiotics to prevent or treat infections, creams or drugs to relieve the rash, and drugs that modify the immune system.

Hyper-IgE syndrome is a primary immunodeficiency disorder. It may be inherited in one of two ways:

How hyper-IgE is inherited depends on which gene is affected. Why levels of IgE are high is unknown. Both forms cause similar symptoms.

Symptoms

Symptoms of hyper-IgE syndrome usually begin during infancy. In most infants, pockets of pus (abscesses) form in the skin, joints, lungs, or other organs. The abscesses are usually caused by infections with staphylococcal bacteria, and they recur frequently.

People may develop respiratory infections, including pneumonia that may leave giant cysts after the pneumonia has resolved.

An itchy rash develops.

Bones are weak, resulting in many fractures. Facial features may be coarse. Loss of baby teeth is delayed.

Life span depends on the severity of the lung infections.

Diagnosis

  • Blood tests to measure IgE levels

  • Sometimes genetic testing

Hyper-IgE syndrome is suspected when boils and pneumonia develop frequently in infants. The diagnosis is confirmed by blood tests that detect a high level of IgE.

Genetic tests can be done to check for the abnormal genes.

Treatment

  • Antibiotics

Antibiotics, usually trimethoprim/sulfamethoxazole, are given continuously to prevent staphylococcal infections.

The rash is treated with moisturizing creams, antihistamines, and, if infection is likely, antibiotics. Respiratory infections are treated with antibiotics.

Certain drugs that modify the immune system, such as interferon gamma, are sometimes helpful.

* This is the Consumer Version. *