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Letter

Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra

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Pages 75-76 | Accepted 30 Aug 2007, Published online: 12 Jul 2009

References

  • Hoffman H. M., Mueller J. L., Broide D. H., Wanderer A. A., Kolodner R. D. Mutation of a new gene encoding a putative pyrin‐like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome. Nature Genetics 2001; 29: 301–5
  • Hoffman H. M., Gregory S. G., Mueller J. L., Tresierras M., Broide D. H., Wanderer A. A., et al. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum Genet 2003; 112: 209–16
  • Neven B., Callebaut I., Prieur A. M., Feldman J., Bodemer C., Lepore L., et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell‐mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004; 103: 2809–15
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  • Stojanov S., Weiss M., Lohse P., Belohradsky B. H. A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal‐onset multisystem inflammatory disease responsive to methotrexate therapy. Pediatrics 2004; 114: 124–7
  • Matsubayashi T., Suguira H., Arai T., Oh‐ishi T., Inamo Y. Anakinra therapy for CINCA syndrome with novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 2006; 95: 246–9
  • Prieur A. M., Griscelli C., Lampert F., Truchenbrodt H., Guggenheim M. A., Lovell D. J., et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatology 1987; Suppl 66: 57–68

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