Hyper IgE syndrome

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Hyper IgE syndrome (pronounced: /ˈhaɪpər aɪ dʒiː sɪnˈdroʊm/), also known as Job's syndrome or Buckley syndrome, is a rare immunodeficiency disorder characterized by high levels of serum Immunoglobulin E (IgE), recurrent infections, and certain abnormalities in the skin and connective tissues.

Etymology

The term "Hyper IgE syndrome" is derived from the condition's most notable feature: elevated levels of Immunoglobulin E (IgE) in the blood. The alternative names, "Job's syndrome" and "Buckley syndrome", are named after the biblical figure Job (who was afflicted with severe sores) and Dr. R. A. Buckley, who was among the first to describe the condition.

Symptoms

Hyper IgE syndrome is characterized by recurrent skin infections and pneumonia, often beginning in infancy. Affected individuals may also have abnormalities in the skin, bones, and teeth. These can include eczema, coarse facial features, and retained primary teeth.

Causes

Hyper IgE syndrome is caused by mutations in the STAT3 gene. This gene provides instructions for making a protein that is critical for controlling several important cell functions. Mutations in the STAT3 gene disrupt these functions, leading to the signs and symptoms of Hyper IgE syndrome.

Diagnosis

Diagnosis of Hyper IgE syndrome is based on clinical features, laboratory findings of elevated IgE levels, and genetic testing confirming a mutation in the STAT3 gene.

Treatment

Treatment for Hyper IgE syndrome is focused on managing the symptoms and includes antibiotic therapy for infections, immunoglobulin therapy to boost the immune system, and in severe cases, hematopoietic stem cell transplantation.

See also

External links

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