Hyperimmunoglobulin E syndrome

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Hyperimmunoglobulin E syndrome
Synonyms	Job's syndrome
Pronounce
Specialty	Immunology
Symptoms	Recurrent skin and lung infections, eczema, high levels of immunoglobulin E
Complications	Pneumonia, abscesses, scoliosis, osteoporosis
Onset	Childhood
Duration	Lifelong
Types	Autosomal dominant, autosomal recessive
Causes	Genetic mutations in STAT3 or other genes
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Atopic dermatitis, chronic granulomatous disease
Prevention	None
Treatment	Antibiotics, antifungals, immunotherapy
Medication	Antibiotics, antifungals
Prognosis	Variable, depends on severity
Frequency	Rare
Deaths	N/A

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

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

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

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

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

Prognosis

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

• Immunodeficiency
• Eczema
• Pneumonia
• Dermatitis

References

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External Links

• NCBI Bookshelf: Hyperimmunoglobulin E syndrome
• NIH: Hyper IgE Syndrome

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