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Health Agencies Update
July 22 2009

New Inflammatory Disorder

JAMA. 2009;302(4):375. doi:10.1001/jama.2009.1049

An international team of scientists, including several from the National Institutes of Health, have identified a new autoinflammatory disease.

The scientists identified 9 children from 6 families who were homozygous for mutations in IL1RN, a gene in the interleukin 1 (IL-1) pathway, and who developed severe skin and bone inflammation shortly after birth (Aksentijevich I et al. N Engl J Med. 2009;360[23]:2426-2437). The researchers proposed naming the disorder deficiency of the interleukin 1–receptor antagonist (DIRA).

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