If you suspect Job syndrome or have a family history of this genetic disorder, it is important to learn more about it. Read on to learn more about the genetics of the disorder, as well as more about the symptoms and treatment.
Job syndrome, also referred to as hyperimmunoglobulin E syndrome, is a rare genetic disorder characterized by skin, lung, teeth, sinus, and bone abnormalities. Patients will have a abnormally high blood levels of immunoglobulin E, an immune system protein. This genetic disorder is treatable, but cannot be cured. Patients can live a full life, but will have to be closely monitored by a doctor because this disorder is chronic and patients are prone to a variety of infections.
How Common is this Genetic Disorder?
Job syndrome is very rare, with only about 250 people reported to have this disorder in medical literature. It is estimated that less than one per one million people are affected.
Genetics of Job Syndrome
This disorder is caused by STAT3 gene mutations. The STAT3 protein plays a role in a number of cellular functions, including cell movement, cell growth and division, and the self-destruction of cells. This genetic disorder is inherited most often through an autosomal dominant pattern. Researchers have also found this disorder inherited in an autosomal recessive pattern, but this is less common.
Since this genetic disorder affects so many different body systems, the symptoms are often spread out among them. Symptoms include:
- Persistent infection and skin abscesses
- Recurrent sinus infections
- Tooth and bone defects, such as delayed shedding of baby teeth and fractures
Diagnosing this Genetic Disorder
Doctors often perform an eye exam to look for any indications of dry eye syndrome. During the physical exam, doctors will be looking for osteomyelitis (chronic or acute bone infection), recurrent sinus infections, and curving of the spine. Lung abscesses can be looked for using a chest x-ray. Other diagnostic tests can include:
- Absolute eosinophil count
- Serum globulin electrophoresis (used to search for high levels of IgE in the blood)
- x-ray of the sinuses
- CT scan
- Complete blood count with blood differential
- X-ray of the bones
- Cultures of the infected site
- Special blood tests that allow the doctor to explore the elements of the immune system
How is Job Syndrome Treated?
The goal of treating this genetic disorder is to control the recurrent infections patients often suffer from. Antibiotic medications are the most commonly used. Antiviral medications and antifungal medications can also be beneficial in some cases. Abscesses will sometimes require surgery to be drained. Intravenous gamma globulin can be used to help temporarily strengthen the immune system during severe infections.
Patients with eczema can benefit from moisturizing creams and lotions. They may also benefit from avoiding anything that is known to irritate their skin. Patients who experience bone fractures will be treated as necessary with splinting, casting, and medications for pain and inflammation. Those who experience teeth defects may need extra dental care.
Genetics Home Reference. (2010). Job Syndrome. Retrieved on July 15, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/job-syndrome
Medline Plus. (2009). Hyperimmunoglobulin E Syndrome. Retrieved on July 15, 2010 from Medline Plus: http://www.nlm.nih.gov/medlineplus/ency/article/001311.htm
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