RGD Reference Report - Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. - Rat Genome Database

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Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

Authors: 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 
Citation: Goldbach-Mansky R, etal., N Engl J Med. 2006 Aug 10;355(6):581-92.
RGD ID: 8549803
Pubmed: PMID:16899778   (View Abstract at PubMed)
PMCID: PMC4178954   (View Article at PubMed Central)
DOI: DOI:10.1056/NEJMoa055137   (Journal Full-text)

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 In 11 patients, anakinra was withdrawn at three months until a flare occurred.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. (ClinicalTrials.gov number, NCT00069329 [ClinicalTrials.gov].).

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cryopyrin-Associated Periodic Syndromes  IDA 8549803 RGD 
Cryopyrin-Associated Periodic Syndromes  ISOIL1RN (Homo sapiens)8549803; 8549803 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il1rn  (interleukin 1 receptor antagonist)

Genes (Mus musculus)
Il1rn  (interleukin 1 receptor antagonist)

Genes (Homo sapiens)
IL1RN  (interleukin 1 receptor antagonist)


Additional Information