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).
The protein product of IL1RN inhibits IL-1, and unchecked IL-1 causes life-threatening inflammation in these patients, according to the scientists. Five of 6 surviving patients treated with anakinra, a recombinant IL-1–receptor antagonist, experienced remission; the patient who did not respond to the drug had chromosomal deletions that included IL1RN, the authors report.
The authors also recommend screening newborns for this autosomal recessive genetic disorder in Newfoundland, the Netherlands, and . . . [Full Text of this Article]
