Goldbach-Mansky, R; Dailey, NJ; Canna, SW; Gelabert, A; Jones, J; Rubin, BI; Kim, HJ; ... Kastner, DL; + view all Goldbach-Mansky, R; Dailey, NJ; Canna, SW; Gelabert, A; Jones, J; Rubin, BI; Kim, HJ; Brewer, C; Zalewski, C; Wiggs, E; Hill, S; Turner, ML; Karp, BI; Aksentijevich, I; Pucino, F; Penzak, SR; Haverkamp, MH; Stein, L; Adams, BS; Moore, TL; Fuhlbrigge, RC; Shaham, B; Jarvis, JN; O'Neil, K; Vehe, RK; Beitz, LO; Gardner, G; Hannan, WP; Warren, RW; Horn, W; Cole, JL; Paul, SM; Hawkins, PN; Pham, TH; Snyder, C; Wesley, RA; Hoffmann, SC; Holland, SM; Butman, JA; Kastner, DL; - view fewer (2006) Neonatal-onset multisystem inflammatory disease responsive to interleukin-1 beta inhibition. NEW ENGL J MED , 355 (6) 581 - 592.

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Abstract

BACKGROUND:Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation.METHODS:We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare.RESULTS:All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P<0.001) and serum amyloid A (from a median of 174 mg to 8 mg per liter), C-reactive protein (from a median of 5.29 mg to 0.34 mg per deciliter), and the erythrocyte sedimentation rate decreased at month 3 (all P<0.001), and remained low at month 6. Magnetic resonance imaging showed improvement in cochlear and leptomeningeal lesions as compared with baseline. Withdrawal of anakinra uniformly resulted in relapse within days; retreatment led to rapid improvement. There were no drug-related serious adverse events.CONCLUSIONS:Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations.

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