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

摘要

We report on a Finnish patient with familial cold autoinflammatory syndrome (FCAS) who had two missense mutations in the CIAS1 gene. Each of them has been reported previously in association with FCAS. The patient responded well to anakinra therapy. This is the first family from Finland to be described with FCAS. Mutations of CIAS1, the gene encoding cryopyrin/ NALP3, lead to a spectrum of autosomal dominant autoinflammatory disorders that, in order of severity from mild to severe, include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurological cutaneous and articular (C1NCA) syndrome, which is also known as neonatal-onset multisystem inflammatory disease (NOMID) (1-4). The efficacy of the interleukin (IL)-l receptor antagonist anakinra in the treatment of these disorders has been demonstrated recently (5-7).