Hyperimmunoglobulin E syndrome
Alternate Names : Job syndrome, Hyper IgE syndrome
Definition
Hyperimmunoglobulin E syndrome is a rare, inherited disease associated with abnormalities of the skin, sinuses, lungs, bones, and teeth.
Overview, Causes, & Risk Factors
Hyperimmunoglobulin E syndrome is also know as Job syndrome, after the biblical character Job whose faithfulness was tested by a lifelong affliction of draining skin sores and pustules. People with this condition have chronic and severe skin infections. The symptoms are usually present in childhood, but because the disease is so rare, it often takes years before a correct diagnosis is made.
Recent research suggests that the disease is often caused by a genetic mutation (specifically, a change in the STAT3 gene on chromosome 4). How this gene abnormality causes the symptoms of the disease is not well understood, although it is known that people with the disease have higher-than-normal levels of an antibody called IgE.
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