Hyperimmunoglobulin E Syndrome

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Submitted By Kayle5
Words 392
Pages 2
Hyperimmunoglobulin E syndrome (HIES)
(also known as Job's syndrome or Buckley syndrome)
Impact on the immune system: HIES leads to abnormal neutrophil chemotaxis (how it directs its movement depending on chemicals in its environment). Decreased production of interferon gamma (IFN-γ) by T lymphocytes is believed to be the cause of the disease. There are two types of inheritance for this disease: - autosomal dominant: The disease was linked to mutations in the STAT3 gene after cytokine profiles indicated alterations in the STAT3 pathway. - autosomal recessive: DOCK8 mutations. This type of HIES was only recently discovered, and is a small percentage of cases.

Specific immune response: People with this disease have a higher-than-normal level of IgE. Despite this, patients are vulnerable to infection and disease because other important immune cells do not function properly. HIES patients are born with abnormal T 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.
Symptoms: Common symptoms of HIES include persistent skin abscesses and infections, recurrent pus in the sinuses, eczema, itchy skin, and painless skin abscesses (infections). These abscesses are why the disease was at first termed Job's syndrome, as these abscesses were similar to the ones Job suffered in the Bible.
In addition to this, patients often suffer from recurrent infections such as fungal infections of the mouth and nails, bronchitis, pneumonia, ear infections, sinus infections, bone infections, and gingivitis. Some patients may also suffer from skeletal and dental abnormalities such as scoliosis, fractured bones (that often go unrecognized because they cause little or no pain), bone and teeth defects, and late shedding and fractures of…...

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