臨床症例報告ジャーナル

Identification of a New Mutation (C.562G>T P. Gly188) in a Young Man Affected by NLRP12 Associated Periodic Syndrome (NAPS12): Efficacy of Anti-IL1-Beta Treatment

Abstract

Delfino Lorenzo, Tinazzi Elisa, Olivieri Bianca, Todesco Mattia, Caminati Marco and Lunardi Claudio

NLRP12 associated periodic syndrome, also called Familial Cold Autoinflammatory Syndrome-2 (FCAS2), is a monogenic autoinflammatory disorder caused by mutations of the gene NLRP12 and is characterized by recurrent episodes of fever, often after cold exposure or physical stress, in association with arthralgias/arthritis, myalgias, headaches, aphthous ulcers, lymphadenopathy, abdominal pain, sierositis, dermatitis and urticaria. The episodes can last several days and can be very disabling. In the latest years different mutations of NLRP12 have been identified, explaining the clinical heterogeneity and the different response to treatments. Here we describe a case of a 24-years-old man affected by FCAS2 with a new nonsense mutation of the gene NLRP12 who initially had a good response to steroid therapy and subsequently to anti-IL-1 beta treatment.