An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist
Ivona Aksentijevich, Seth L Masters, Polly J Ferguson, Paul Dancey, Joost Frenkel, Annet van Royen-Kerkhoff, Ron Laxer, Ulf Tedgard, Edward W Cowen, Tuyet-Hang Pham, Matthew Booty, Jacob D Estes, Netanya G Sandler, Nicole Plass, Deborah L Stone, Maria L Turner, Suvimol Hill, John A Butman, Rayfel Schneider, Paul Babyn Show all
NEW ENGLAND JOURNAL OF MEDICINE | MASSACHUSETTS MEDICAL SOC | Published : 2009
BACKGROUND: Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone. METHODS: We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. Response to empirical treatment with the recombinant interleukin-1-receptor antagonist anakinra in the first patient prompted us to test for the presence of mutations and changes in proteins and their function in interleukin-1-pathway genes including IL1RN. RESULTS: ..View full abstract
Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
Supported by the Intramural Research Programs of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Human Genome Research Institute (NHGRI).Dr. Ferguson reports receiving grant support from the National Institutes of Health (NIH) and NIAMS, the Children's Miracle Network, and the Peregrine Charities; Dr. Schneider, consulting and lecture fees and a grant support from Hoffmann-La Roche and grant support from Amgen, the company that makes anakinra; and Dr. Korman, grant support from the NIH Clinical Research Training Program, a public - private partnership between the Foundation for the NIH and Pfizer. Dr. Gregersen reports receiving consulting fees from Roche Pharmaceuticals and holding stock options in Amgen, Illumina, and Genentech. No other potential conflict of interest relevant to this article was reported.