Job syndrome is a relatively rare condition that affects the immune system and several other body systems. Those with this condition commonly struggle with recurrent infections. Job syndrome is characterized by frequent bouts of pneumonia, recurrent skin infections, and eczema. The skin infections cause rashes, blisters, abscesses, open sores, and scaling. Those affected also suffer from recurrent pus in the sinus, bone defects, and tooth defects which include fractures and late shedding of baby teeth. Job syndrome is also known as Hyperimmunoglobulin E syndrome because it produces high levels of the antibody immunoglobulin (IgE).

Immunoglobulin E (IgE) is an immune system protein located in the blood. IgE triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with Job syndrome have such high levels of IgE. There is no known cure, the goal of treatment is to control the recurrent infections.

The disease was called Job syndrome because there was a man in the Bible named Job, whose faithfulness was tested by an affliction of draining skin sores and pustules. An entire book of the Old Testament was written about Job’s hardships and the lack of his friends’ understanding.

In most cases, Job syndrome is inherited in a dominant fashion so it runs in families with high frequency. If you are considering adopting a child whose family medical history contains Job syndrome then you should be prepared to watch for symptoms. The bacteria Staphylococcus aureus is believed to be a common trigger for the infections related to the disease. However, there are other common triggers, which include Streptococcus pneumoniae, Haemophilus influenzae, Candida albicans, and the herpes virus.

Many people afflicted with Job syndrome have skeletal abnormalities. These include an unusually large range of joint movement or hyper-extensibility, scoliosis, an abnormal curvature of the spine, reduced bone density known as osteopenia, and a tendency for bones to fracture easily. Dental abnormalities include not loosing baby teeth as the adult teeth grow in. Distinctive facial features and structural abnormalities of the brain, which typically do not affect a person's intelligence, are also characteristics of Job syndrome.

Usually Job syndrome is caused by mutations in the STAT3 gene. When it is not caused by this, the genetic cause is unknown. The STAT3 gene provides instructions for making a protein that plays an important role in several body systems. The STAT3 protein is involved in cell growth, division, cell movement, and apoptosis, which is the self-destruction of cells. Changes in this gene impair its ability to control the activity of other genes. The defective protein disrupts cellular functions such as immune system regulation. The resulting immune system abnormalities make people with Job syndrome highly susceptible to infections.

Tests used to confirm a diagnosis include:
Absolute eosinophil count
CBC with blood differential
Serum globulin electrophoresis to look for high blood IgE levels
Other tests that may be done:
X-ray of the sinuses
X-ray of the bones
CT scan of the chest
Cultures of infected site

Photo Credit
Attribution license creative commons
Psd’s photo stream uploaded Feb 20, 2008