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Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene

2005; Wiley; Volume: 95; Issue: 2 Linguagem: Inglês

10.1080/08035250500341451

1651-2227

Tadashi Matsubayashi, Hiroshi Sugiura, Takashi Arai, Tsutomu Oh‐ishi, Yasuji Inamo,

Immune Cell Function and Interaction

We report on a patient with chronic infantile neurological cutaneous and articular (CINCA) syndrome. Sequence analysis revealed a novel missense mutation in exon 4 of the CIAS1 gene. The patient was unresponsive to several treatments including prednisolone, immunosuppressants (azathioprine and cyclosporin), disease-modifying antirheumatic drugs (DMARDs: penicillamine, salazopyrin and methotrexate) and the tumour necrosis factor-alpha (TNF-a)-blocker infliximab. At 32 mo of age, administration of the recombinant human interleukin-1 receptor antagonist anakinra commenced, which caused an immediate and marked improvement in the clinical symptoms and laboratory test results. Continuous inhibition of the inflammation required a dose of 1.0 mg/kg every 12 h.Following the diagnosis of CINCA syndrome, anakinra treatment should be commenced as the first line of therapy.