Hyperimmunoglobulin E syndrome

Hyperimmunoglobulin E syndrome is a rare, inherited disease that causes problems with the skin, sinuses, lungs, bones, and teeth.

Causes of Hyperimmunoglobulin E syndrome

Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules. People with this condition have long-term, severe skin infections.

The symptoms are usually present in childhood, but because the disease is so rare, it often takes years before a correct diagnosis is made.

Recent research suggests that the disease is often caused by a genetic change (mutation) -- a change in the STAT3 gene on chromosome 4. How this gene abnormality causes the symptoms of the disease is not well understood. However, people with the disease have higher-than-normal levels of an antibody called IgE.

Hyperimmunoglobulin E syndrome Symptoms

• Bone and tooth defects, including fractures and losing the baby teeth late
• Eczema
• Skin abscesses and infection
• Repeated sinus infections

Tests and Exams

An eye exam may reveal signs of dry eye syndrome. A physical exam may show:

• Curving of the spine (kyphoscoliosis)
• Osteomyelitis
• Repeat sinus infections

A chest x-ray may reveal lung abscesses.

Tests used to confirm the diagnosis include:

• Absolute eosinophil count
• CBC with blood differential
• Serum globulin electrophoresis to look for high blood IgE levels

Other tests that may be done:

• CT scan of the chest
• Cultures of the infected site
• Special blood tests to check parts of the immune system
• X-ray of the bones
• X-ray of the sinuses

A scoring system that combines the different problems of Job syndrome is used to help make the diagnosis.

Treatment of Hyperimmunoglobulin E syndrome

There is no known cure for this condition. The goal of treatment is to control the infections. Medications include:

• Antibiotics
• Antifungal and antiviral medications (when appropriate)

Sometimes, surgery is needed to drain abscesses.

Gamma globulin given through a vein (IV) may help build up the immune system if you have severe infections.

Prognosis (Outlook)

Job syndrome is a lifelong chronic condition. Each new infection requires treatment.

Potential Complications

• Repeated infections
• Sepsis

When to Contact a Health Professional

Call your health care provider if you have symptoms of Job syndrome.

Prevention of Hyperimmunoglobulin E syndrome

There is no proven way to prevent Job syndrome. Good general hygiene is helpful.

Some doctors may recommend preventive antibiotics for people who many infections, especially with Staphylococcus aureus. This treatment does not change the condition, but it can lessen its complications.

References

Genetics Home Reference (GHR). Job Syndrome. Feb 2008. Accessed Nov. 13, 2008.

Immune Deficiency Foundation. Immune Deficiency Foundation Patient & Family Handbook. Chapter 12: Hyper IgE Syndrome. 4th ed. 2007. Accessed Nov. 13, 2008.

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