Hyperimmunoglobulin E syndrome
Key points
- 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.
- 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.
- The goal of treatment is control of the recurrent infections.
- Calling your health care provider Call your health care provider if you are experiencing or observing a collection of the above signs and symptoms.
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)
Written and revised by
Gerald Hurowitz, M.D.
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