What is Job Syndrome?

Job syndrome is an unusual genetic disorder characterized by an excess of immunoglobulin E (IgE) in the body. People with this condition have overactive immune systems which cause a variety of symptoms. The severity of Job syndrome can vary. People with this condition usually require some extra medical support but they can live otherwise normal lives as long as they receive prompt and attentive care for infections.

This condition is also known as Job's syndrome or Hyper IgE syndrome. Symptoms usually occur close to birth and in early infancy, starting with a distinctive rash. The patient will be prone to skin and lung infections by bacteria and viruses, and can develop neurological symptoms. Job syndrome also weakens the bones, making them prone to fractures, and can cause dental problems. People may not lose their baby teeth as their adult teeth come in, for example. Job syndrome is also linked with hypermobility of the joints and scoliosis of the spine.

This condition is extremely rare and has only been documented since the 1960s. There are both recessive and dominant forms of Job syndrome and in a family with a history of the condition people may experience different levels of severity. There is no cure for Job syndrome because it involves a genetic variance which leads to abnormalities in the immune system.

Supportive therapy includes the use of antibiotic and antiviral drugs to treat infection, along with orthopedic treatment for the bone and joint problems. Patients who develop scoliosis may wear braces to support their spines and limit the curvature. In cases where dental problems develop, an oral surgeon can provide treatment. Some people with Job syndrome also develop unusual facial features which may be treated by a plastic surgeon if the patient experiences discomfort as a result of the facial variations.

If a doctor suspects that a patient may have Job syndrome, several diagnostic tests can be run to look for key signs. Since this condition is rare, a doctor may miss it at first unless she or he has experience with patients who have this condition. After a diagnosis of Job syndrome, parents may find it helpful to discuss the condition with a genetic counselor to learn more about the specifics of the case in their child. Usually patients with this condition need treatment from doctors in a number of different specialties and they may require some accommodations to reduce the risk of infections and fractures associated with the condition.