Hyperimmunoglobulin E syndrome

From WikiMD's Wellness Encyclopedia

(Redirected from Hyper-IgE syndrome)

Hyperimmunoglobulin E syndrome (also known as Job's syndrome) is a rare, multisystem disorder characterized by elevated serum levels of immunoglobulin E (IgE), dermatitis, and recurrent skin and lung infections. The syndrome is named after the biblical character Job whose faithfulness was tested by an afflictive skin disease.

Signs and Symptoms[edit | edit source]

Patients with Hyperimmunoglobulin E syndrome typically present with recurrent skin abscesses and pneumonia. Other symptoms may include eczema, coarse facial features, and delayed shedding of primary teeth. The severity of symptoms can vary widely among affected individuals.

Causes[edit | edit source]

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

Diagnosis[edit | edit source]

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

Treatment[edit | edit source]

Treatment for Hyperimmunoglobulin E syndrome is focused on managing the symptoms and includes antibiotics to treat infections and medications to manage the dermatitis.

Prognosis[edit | edit source]

The prognosis for individuals with Hyperimmunoglobulin E syndrome varies. Some individuals have a normal lifespan with few complications, while others may have severe, life-threatening infections.

See Also[edit | edit source]

References[edit | edit source]


External Links[edit | edit source]

Hyperimmunoglobulin E syndrome Resources
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Contributors: Prab R. Tumpati, MD