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.
(See also Overview of Immunodeficiency Disorders.)
IgE is one of 5 types of 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.
Hyper-IgE syndrome is a primary immunodeficiency disorder. It may be inherited in one of two ways:
As an autosomal (not sex-linked) dominant disorder: That is, only one gene for the disorder, one from either parent, is required.
As an autosomal recessive disorder: That is, two genes for the disorder, one from each parent, are required.
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, and they recur frequently.
People may develop respiratory infections, including pneumonia that may leave giant cysts (sacs filled with fluid) 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 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
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.
Immune Deficiency Foundation: Hyper-IgE syndrome: Comprehensive information on hyper-IgE syndrome, including information on diagnosis and treatment and advice for people affected
