Job's Syndrome

Rare Immune Disorder

Job's Syndrome is a rare immune disorder that causes recurrent, severe bacterial and fungal infections which lead to outbreaks of abscesses and boils. Some sufferers develop lung infections, dental and facial development problems, curvature of the spine and may also be at a higher risk for bone fractures. With the aid of intensive medical supervision, individuals with Job's syndrome can have normal life spans, though there is a constant concern that the infections may cause life-threatening complications.

A Good Year 

This has been a good year for sufferers of Job's syndrome as scientists have made more than one breakthrough in their understanding of the disease. Scientists at the National Institutes of Health (NIH) have made the recent discovery that Job's syndrome sufferers are lacking in a specific type of white blood cell called Th17 cell, leaving them vulnerable to attacks by fungi and bacteria.

Th17 cells produce the protein called interleukin-17 (IL-17) and play a major role in protecting against invading pathogens. Th17 cells help recruit microbe-fighting neutrophils to the site of infection. Researchers participating in this study found that 13 patients with Job's syndrome were lacking Th17 cells. This was the first case of a human genetic disorder in which researchers were not able to generate Th17 cells during laboratory experiments involving blood samples.

This discovery suggests that Th17 cells play a critical role in controlling Staphylococcus bacteria and certain fungal infections. These findings may help us to understand why some people who do not have Job's syndrome are prone to developing staph and fungal infections.

Only 250 cases of Job's syndrome have been reported since 1966 when the disease was first described. Still, NIH scientists have been studying the disease for 30 some years. In September of 2007, scientists discovered a mutation in the gene that makes the specific protein that is known to trigger and aid immune system responses in blocking pathogen invaders. The gene codes proteins are known as signal transducer and activator of transcription 3 (STAT3).

Thanks to this discovery, the current study takes this knowledge one step further based on the knowledge that the gene responsible for the creation of STAT3 is a working component in the differentiation of the Th17 cells. Researchers believe that the absence of Th17 cells in Job's syndrome patients may contribute to an immune deficiency that causes the recurrence of the types of infection characteristic to the disorder. The study included 13 patients diagnosed with Job's syndrome.