Gene Found that Causes Job Syndrome

A Rare immunodeficiency disorder called Job syndrome is caused by a gene that both over works and under works the immune system of those people it affects. This condition creates both bacterial and fungal infections within those who suffer from this syndrome.

This disorder was first discovered in 1966 and only about 250 cases have been reported world wide in those forty-one years. It is very rare indeed which is good, considering the disturbing factors of this syndrome. People with this disease often live long lifes; they also have to be extremely careful of bacteria and fungus.

Their immune system allows them to get infections very easily and what may not bother the rest of us, affects them in huge ways. They get boils, abscess in their lungs, and they have bones which could break quite easily. They can break a rib simply by swinging a golf club or break a leg by carrying in groceries.

People with Job's syndrome can have lots of recurring skin infections that result is huge unsightly boils and open areas on their skin. They typically have curved backs, facial deformities, and jaw malformations.

Two separate groups of scientists were working on finding the mutated gene. The researchers were from the National Institute of Health and the other was from the Tokyo Medical and Dental University.

The researchers involved with this study located a defect in the STAT3 gene in all of the forty-eight people with this disease they tested. They did not find this gene mutation in the 48 relatives of those family members of those with the disease. They also tested some unrelated people and found none of them had the mutated gene. The scientists knew they had their answer.

With the discovery of the cause of this rare syndrome, doctors can help other affected with Jobs and other disabling immunological disorders. This is a major medical breakthrough.

The mutation of this gene is what causes defects when the body in developing bones and organs in the uterus. There is no cure for this rare disease currently finding this mutated gene is one-step closer in the long uphill battle for a cure.

This gene is tells our body how to handle bacteria, and fungus. It tells our teeth and bones how to grow and out skin how to behave. These are all very important tasks within the body, so that is why it is very important to find the cure so that this disease can be stricken from the human population.