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Hyperimmunoglobulinemia E Syndrome

by James Fernandez, MD, PhD

Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, or Buckley syndrome) is a hereditary immunodeficiency disorder characterized by early onset of recurrent boils, sinus and lung infections, and a severe rash. Levels of immunoglobulin E (IgE) are very high.

In hyper-IgE syndrome, the number of B and T cells (lymphocytes) is normal. The syndrome is usually caused by a mutation in one of the genes involved in making immunoglobulins.

Symptoms 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.

The diagnosis is suspected based on recurrent boils and pneumonia at a young age and confirmed by blood tests that detect a high level of IgE. Genetic tests can be done to check for the abnormal genes.

Antibiotics, usually trimethoprim/sulfamethoxazole, are given continuously to prevent staphylococcal infections. The rash and respiratory infections are treated. Certain drugs that modify the immune system, such as interferon gamma and omalizumab, are sometimes helpful.

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