Hyperimmunoglobulin E 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

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

External Links

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

Hyperimmunoglobulin E syndrome Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski