Good response to IL‐1β blockade by anakinra in a 23‐year‐old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies

References

• Prieur A. M. A recently recognized chronic inflammatory disease of early onset characterized by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 2001; 19: 103–6
   PubMed Web of Science ®Google Scholar
• Kallinich T., Hoffmann H. M., Roth J., Keitzer R. The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide. Scand J Rheumatol 2005; 34: 246–9
   PubMed Web of Science ®Google Scholar
• OMIM (Online Mendelian Inheritance in Man). Database of human genes and genetic disorders. National Center for Biotechnology Information, Bethesda, MD 2006
   Google Scholar
• Stojanov S., Kastner D. L. Familial autoinflammatory disease: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586–99
   PubMed Web of Science ®Google Scholar
• Aksentijevich I., Nowak M., Mallah M., Chae J. J., Watford W. T., Hofmann S. R., et al. De novo CIAS1 mutations, cytokine activation, and evidence of genetic heterogeneitiy in patients with neonatal‐onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin‐associated autoinflammatory diseases. Arthritis Rheum 2002; 46: 3340–8
   PubMed Web of Science ®Google Scholar
• Agostini L., Martinson F., Burns K., McDermott, Hawkins P. N., Tschopp J. NALP3 forms an IL‐1β‐processing inflammasome with increased activity in Muckle–Wells autoinflammatory disorder. Immunity 2004; 20: 319–25
   PubMed Web of Science ®Google Scholar
• Goldbach‐Mansky R., Dailey N. J., Canna S. W., Gelabert A., Jones J., Rubin B., et al. Neonatal‐onset multisystemic inflammatory disease responsive to interleukin‐1β inhibition. N Engl J Med 2006; 10: 581–92
   Google Scholar
• Lovell D. J., Bowyer S. L., Solinger A. M. IL‐1 blockade by anakinra improves clinical symptoms in patients with NOMID. Arthritis Rheum 2005; 52: 1283–6
   PubMed Web of Science ®Google Scholar
• Frenkel J., Wulffraat N. M., Kuis W. Anakinra in mutation negative NOMID/CINCA syndrome. Arthritis Rheum 2004; 50: 3738–9
   PubMed Web of Science ®Google Scholar
• Granel B., Serratrice J., Disdier P., Weiller P. J. Dramatic improvement with anakinra in a case of CINCA syndrome. Rheumatology 2005; 44: 689–90
   PubMed Web of Science ®Google Scholar
• Hawkins P. N., Lachmann H. J., Aganna E., McDermott M. F. Spectrum of clinical features in Muckle–Wells syndrome and response to anakinra. Arthritis Rheum 2004; 50: 607–12
   PubMed Web of Science ®Google Scholar
• Fiala M., Cribbs D. H., Rosenthal M., Bernard G. Phagocytosis of amyloid‐beta and inflammation: two faces of innate immunity in Alzheimer's disease. J Alzheimers Dis 2007; 11: 457–63
   PubMedGoogle Scholar
• Dhenain M., El Tannir El Tayara N., Wu TD., Guegan M., Volk A., et al. Characterization of in vivo MRI detectable thalamic amyloid plaques from AAP/PS1 mice. Neurobiol Aging 2007 June, (Epub ahead of print) doi:10.1016/j.neurobiolaging.2007.05.018
   PubMedGoogle Scholar
• Shintani S., Fumimura Y., Shiigai T. Acute disseminated encephalomyelitis following aseptic meningoencephalitis. Clin Neurol Neurosurg 2001; 103: 155–9
   PubMedGoogle Scholar
• Goutières F. Aicardi–Goutières syndrome. Brain Dev 2005; 27: 201–6
   PubMedGoogle Scholar
• Grosso S., Balestri P., Mostardini R., Federico A., De Stefoano N. Brain mitochondrial impairment in ethylmalonic encephalopathy. J Neurol 2004; 251: 755–6
   PubMedGoogle Scholar
• Barnérias C., Giurgea I., Hertz‐Pannier L., Bahi‐Buisson N., Boddaert N., Rustin P., et al. Respiratory chain deficiency in a female with Aicardi–Goutières syndrome. Dev Med Child Neurol 2006; 48: 227–30
   PubMedGoogle Scholar
• Hayflick S. J. Pathotenate kinase‐associated neurodegeration (formerly Hallervorden–Spatz syndrome). J Neurol Sci 2003; 207: 106–7
   PubMedGoogle Scholar
• Dinarello C. A. Interleukin‐1, interleukin‐1 receptors and interleukin‐1 receptor antagonist. Int Rev Immunol 1998; 16: 457–99
   PubMedGoogle Scholar
• Benveniste E. N. Inflammatory cytokines within the central nervous system: sources, function, and mechanism of action. Am J Physiol 1992; 263: C1–16
   Web of Science ®Google Scholar