Pediatrics Medical News about New Inflammatory Disorder

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New Inflammatory Disorder
JAMA, 07/22/09

Kuehn BM – 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. The protein product of IL1RN inhibits IL–1, and unchecked IL–1 causes life–threatening inflammation in these patients. 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.

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