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Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, or Buckley syndrome) is a hereditary immunodeficiency disorder characterized by early onset of recurrent boils and pneumonia but with very high levels of immunoglobulin E (IgE) and normal levels of other types (classes) of antibodies (immunoglobulins).
In hyper-IgE syndrome, the number of B and T cells (lymphocytes) is normal. The syndrome is caused by a mutation in a particular gene.
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. Lung infections may develop leaving giant cysts after the pneumonia has resolved. An itchy dermatitis develops. Bones are weak, resulting in many fractures. Facial features may be coarse. Loss of baby teeth is delayed.
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 gene.
Antibiotics, such as dicloxacillin or cephalexin, are given continuously to prevent staphylococcal infections. Life span depends on the severity of the lung infections.
Last full review/revision September 2008 by Rebecca H. Buckley, MD
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