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Scientists discover new genetic immune disorder in children
Date:6/4/2009

Your immune system plays an important function in your healthit protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing unprovoked and dangerous inflammation. Now, researchers from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health, and other institutions have discovered a new autoinflammatory syndrome, a rare genetic condition that affects children around the time of birth. The findings appear in the current issue of the New England Journal of Medicine.

The scientists have termed the new autoinflammatory syndrome DIRA (deficiency of the interleukin-1 receptor antagonist). Children with the disorder display a constellation of serious and potentially fatal symptoms that include swelling of bone tissue; bone pain and deformity; inflammation of the periosteum (a layer of connective tissue around bone); and a rash that can span from small individual pustules to extensive pustulosis that covers most of the patient's body. Most of the children begin to have symptoms from birth to 2 weeks of age.

"The beauty of this discovery is that the symptoms of this devastating disease can now be treated," said NIAMS director and immunodermatologist, Stephen I. Katz, M.D., Ph.D. "The abnormal inflammatory pathways seen in this disease may also help us understand other common diseases that share clinical features, such as psoriasis, as well as other autoinflammatory disorders."

"We knew when we saw these children that we were dealing with a previously unrecognized autoinflammatory syndrome. The clinical characteristics were distinct from other diseases we had seen before," said NIAMS researcher and lead author Raphaela Goldbach-Mansky, M.D., M.H.S. When her colleague, Dr. Ivona Aksentijevich, tested the first patient for genetic abnormalities, their suspicions were confirm
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Contact: Trish Reynolds
reynoldsp2@mail.nih.gov
301-496-8190
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Source:Eurekalert

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