Hyperimmunoglobulin E syndrome


Hyperimmunoglobulin E syndrome (HIES), also called Job syndrome, is an inherited immunodeficiency that is characterized by recurrent bacterial infections, skin abscesses, and high levels of immunoglobulin E (IgE). Immunoglobulin (Ig), also called antibodies, is secreted by immune system cells to detect antigens (foreign substances like bacteria and viruses that enter the body). Once the antibodies attach to the antigen, white blood cells destroy the antigen.
Even though HIES patients have high levels of IgE in their blood, they are vulnerable to infection and disease because other important immune cells do not function properly. HIES patients are born with abnormal T-cells (type of white blood cells) that are unable to produce enough interferon-gamma, which stimulates white blood cells called macrophages to engulf foreign invaders. Consequently, the immune system's response to antigens is delayed.
Studies suggest that HIES is a genetic disorder that can be inherited as either an autosomal dominant (AD-HIES) or autosomal recessive (AR-HIES) trait. However, the specific gene involved remains unidentified.
HIES is an extremely rare disease, with only 250 cases ever reported internationally. Most individuals are not diagnosed until childhood, or sometimes adulthood.
The oldest reported HIES patient was 60 years old. Most patients die between the ages of 20 and 30 from severe pulmonary (lung) infections and diseases like aspergillosis (fungal infection).
Currently, there is no known cure for HEIS. Treatment focuses on controlling recurrent infections. Depending on the cause of infections, patients receive antibiotics, antivirals, or antifungals. In addition, intravenous immunoglobulin (IVIG), which are blood products containing antibodies, may help boost the immune system temporarily when severe infections occur.

Related Terms

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