Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene
- 1 January 2006
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 95 (2) , 246-249
- https://doi.org/10.1080/08035250500341451
Abstract
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.Keywords
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