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Hyper-IgE Syndrome

(Hyperimmunoglobulinemia E Syndrome; Buckley Syndrome)


James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Reviewed/Revised Jan 2023
Topic Resources

Hyper-IgE 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.

IgE is one of 5 types of antibodies Antibodies One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more Antibodies , which help defend the body against infection. The level of IgE is elevated in hyper-IgE syndrome, but this is not the cause of the immunodeficiency. Other parts of the immune system are defective. Why levels of IgE are high is unknown.

How hyper-IgE is inherited depends on which gene is affected. Both forms cause similar symptoms.

Symptoms of Hyper-IgE Syndrome

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 Staphylococcus aureus Infections Staphylococcus aureus is the most dangerous of all of the many common staphylococcal bacteria. These gram-positive, sphere-shaped (coccal) bacteria (see figure ) often cause skin infections... read more <i >Staphylococcus aureus</i> Infections , and they recur frequently.

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 of Hyper-IgE Syndrome

  • 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 of Hyper-IgE Syndrome

  • 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.

More Information

The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

Drugs Mentioned In This Article

Generic Name Select Brand Names
Primsol, Proloprim, TRIMPEX
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