Hyperimmunoglobulin E syndrome
Hyperimmunoglobulin E syndrome (pronounced: hi-per-im-yuh-no-glob-yuh-lin E sin-drome), 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 physical appearance.
Etymology
The term "Hyperimmunoglobulin E syndrome" is derived from the condition's most prominent feature: elevated levels of immunoglobulin E (IgE) in the blood serum. 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
Hyperimmunoglobulin E syndrome is characterized by recurrent skin infections and pneumonia, with the formation of abscesses that lack the usual redness and tenderness observed in normal infections. Other symptoms may include eczema, scoliosis, and bone fractures.
Causes
The syndrome is caused by mutations in the STAT3 gene, which is involved in numerous immune system functions. It is inherited in an autosomal dominant manner, meaning only one copy of the altered gene is necessary to cause the disorder.
Diagnosis
Diagnosis of Hyperimmunoglobulin E syndrome is based on clinical findings, elevated serum IgE levels, and genetic testing confirming a mutation in the STAT3 gene.
Treatment
Treatment for Hyperimmunoglobulin E syndrome is primarily focused on managing and preventing infections. This may involve long-term use of antibiotics and antifungal medications, as well as immunoglobulin therapy.
See also
External links
- Medical encyclopedia article on Hyperimmunoglobulin E syndrome
- Wikipedia's article - Hyperimmunoglobulin E syndrome
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