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;360:2426-2437). The researchers proposed naming the disorder deficiency of the interleukin 1–receptor antagonist (DIRA).
Kuehn BM. New Inflammatory Disorder. JAMA. 2009;302(4):375. doi:10.1001/jama.2009.1049