Hyperimmunoglobulin E syndrome

• Alternative names
• Definition
• Causes, incidence, and risk factors
• Symptoms
• Signs and tests

• Treatment
• Expectations (prognosis)
• Complications
• Calling your health care provider
• Prevention

Alternative names   

Definition    Return to top

Hyperimmunoglobulin E syndrome is a suspected genetic defect that produces high levels of the antibody immunoglobulin (IgE). It causes serious skin and lung infections as well as eczema.

Causes, incidence, and risk factors    Return to top

Hyperimmunoglobulin E syndrome is also know as Job syndrome, after the biblical character Job whose faithfulness was tested by a lifelong affliction of draining skin sores and pustules. People with this condition have chronic and severe skin infections. 

It is an extremely rare disease, and the cause is unknown. However,Staphylococcus aureus is believe to most commonly trigger the infections related to the disease. Other common triggers include  Streptococcus pneumoniae, Hemophilus influenzae, Candida albicans, and the herpes virus.

Hyper IgE syndrome is, in most cases, inherited in a dominant fashion, meaning that it can run in families with high frequency.

Symptoms    Return to top

• Persistent skin abscesses and infection
• Recurrent pus in the sinus
• Eczema
• Bone and tooth defects, including fractures and late shedding of baby teeth

Signs and tests    Return to top

• Keratoconjunctivitis
• Osteomyelitis
• Kyphoscoliosis
• Lung abscesses on chest x-ray
• Recurrent sinus infection

Tests to confirm a diagnosis:

• Quantitative immunoglobulins reveal high blood IgE levels
• Marked eosinophilia  (large amount of white blood cells) by CBC with differential
• Defective neutrophil and monocyte chemotactic studies (though not in all cases)
• Absent delayed hypersensitivity (DCNB, candidal)

Other tests may be done in response to infections:

• X-ray of the sinuses
• X-ray of the bones
• X-ray and CT scan of the chest
• Cultures of infected site

Treatment    Return to top

There is no known cure for the condition. The goal of treatment is to control the recurrent infections. Medications include antibiotic treatment. Antifungal agents and antiviral agents are prescribed when appropriate.

Sometimes, surgical drainage of abscesses is needed.

IV gamma globulin may help to build up the immune system temporarily when there are severe infections.

Expectations (prognosis)    Return to top

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

Complications    Return to top

• Repeated infections
• Infection spreads throughout the body (see sepsis )

Calling your health care provider    Return to top

Call your health care provider if you are experiencing or observing a collection of the above signs and symptoms.

Prevention    Return to top

There is no proven prevention. Good general hygiene is helpful. Some doctors may recommend preventive antibiotics for people with many infections, particularly with Staphylococcus aureus. This does not change the underlying disorder but rather its consequences.