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Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene
Author(s) -
Matsubayashi Tadashi,
Sugiura Hiroshi,
Arai Takashi,
OhIshi Tsutomu,
Inamo Yasuji
Publication year - 2006
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2006.tb02215.x
Subject(s) - medicine , anakinra , infliximab , methotrexate , missense mutation , discontinuation , prednisolone , immunology , disease , mutation , gene , biochemistry , chemistry
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‐α)‐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. Conclusion: Following the diagnosis of CINCA syndrome, anakinra treatment should be commenced as the first line of therapy.