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Cause of Job's Syndrome Identified by Scientists
September 20, 2007 at 8:13 PM
Genetics & Stem Cells News
The NIH teams report will be available in The New England Journal of Medicine. The Tokyo group published its findings in Nature last month.
Understanding the genetic cause of this rare immunological disorder is a signal accomplishment, revealing information that has been sought for decades, says Anthony S. Fauci, M.D., director of the National Institute of Allergy and Infectious Diseases (NIAID), a component of NIH. "The immunological insights from this study not only promise to open new therapeutic doors for Jobs syndrome, but also provide new leads for treating other immunodeficiency diseases.
Only about 250 cases of Jobs syndrome (pronounced like robe, and technically known as hyperimmunoglobulin E syndrome, or HIES) have been reported since it was first discovered in 1966. While individuals with Jobs syndrome often live long lives, life-threatening complications from basic infections are a constant concern. Identifying the specific gene implicated in the disease could benefit scientific study of several diseases that afflict people with Jobs syndrome, including infections caused by Aspergillus, Candida and Staphylococcus.
Jobs syndrome makes the immune system extremely sensitive to invading microbes. People with the syndrome often have multiple, recurring ailments, such as skin infections that cause lesions and boils, and lung infections that cause pneumonia. They also are at high risk of breaking bones, having a curved spine, and experiencing facial and dental developmental difficulties. There is no cure for Jobs syndrome, although antibiotics and antifungals are used to prevent and treat the infections associated with the disorder.
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guest
04/10/2008
my three year old girl has jobs syndrome and i am trying to find out every thing i can about it
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