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A new genetic immune disorder identified
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January 11, 2010  |  Posted in  Steroids Blog

immune_disorderDIRA (deficiency of the interleukin-1 receptor antagonist), has been identified as a new autoinflammatory syndrome by researchers from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health, and other institutions.

This discovered syndrome is a rare genetic condition that affects children around the time of birth.

From News-Medical.Net:

The scientists identified nine patients from six families with DIRA in the Canadian province of Newfoundland, the Netherlands, Lebanon, and Puerto Rico. Those who were alive at the time of diagnosis – six in all – were treated with anakinra, a drug that is normally used for rheumatoid arthritis and is a synthetic form of human IL-1Ra. Although the patients were resistant to other medications such as steroids, most responded successfully and immediately to anakinra. “Our first patient had been unresponsive to several treatments, and his health care team had almost given up. But with anakinra, he was out of the hospital in 10 days and his symptoms resolved,” Dr. Goldbach-Mansky said.
Although the mutation that causes DIRA is rare, as many as 2.5 percent of the population of northwest Puerto Rico are carriers. Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6,300 births in this population. Because the mutation was found in three independent Dutch families, newborn screening for DIRA in this population, as well as that of northwest Puerto Rico, may be warranted, Dr. Goldbach-Mansky said.

It is considered that children who are suffering from this complication show varying severe and potentially fatal symptoms that include swelling of the bone tissue.

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