Hyperimmunoglobulin E syndrome

Alternative names 
Job syndrome; Hyper IgE syndrome

Definition
Hyperimmunoglobulin E syndrome is a suspected genetic defect that results in the production of high levels of the antibody immunoglobulin (IgE), causing serious skin and lung infections as well as eczema.

Causes, incidence, and risk factors

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 afflicted have chronic severe skin infections and abscess formation. The sinuses and airways (including lungs) are also frequently infected. Other sites of infection include bone and visceral abscesses. The most commonly involved bacteria is Staphylococcus aureus. Other common organisms are Streptococcus pneumoniae (bacterium), Hemophilus influenzae (bacterium), Candida albicans (yeast), and the herpes virus (virus).

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

Symptoms

     
  • persistent skin abscesses and infection  
  • recurrent purulent sinusitis  
  • subcutaneous abscesses  
  • eczema  
  • chronic runny nose (allergic rhinitis)  
  • asthma  
  • recurrent skin infections  
  • increased pulmonary infections

Signs and tests

     
  • keratoconjunctivitis  
  • osteomyelitis  
  • kyphoscoliosis  
  • lung abscesses on chest X-ray  
  • recurrent sinus infection

Tests to confirm a diagnosis:

     
  • Quantitative immunoglobulins reveal high serum IgE levels  
  • marked eosinophilia 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 bone(s)  
  • X-ray and CT scan of the chest  
  • cultures of infected site

Treatment

There is no known cure for the condition. The goal of treatment is control of the recurrent infections. Medications include antibiotic treatment of infections with whatever antibiotic is specific for the organism causing the infection. Antifungal agents are prescribed when appropriate. Antiviral agents are given 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)
Job syndrome is a lifelong chronic condition. Each new infection requires treatment.

Complications

     
  • repeated infections  
  • infection spread throughout the body (see sepsis)

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

Prevention
There is no proven infection. Good general hygiene is helpful. Some doctors may recommend prophylactic antibiotics in individuals with many infections, particularly with Staphylococcus aureus. This does not change the underlying disorder but rather its consequences.

Johns Hopkins patient information

Last revised: December 7, 2012
by Sharon M. Smith, M.D.

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