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Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations
Authors:Yuta Yamamura  Kengo Furuichi  Tadashi Toyama  Megumi Oshima  Hisayuki Ogura  Koichi Sato  Shiori Nakagawa  Taro Miyagawa  Shinji Kitajima  Akinori Hara  Yasunori Iwata  Norihiko Sakai  Miho Shimizu  Hiroko Ikeda  Tomoko Toma  Kazuya Takasawa  Akihiro Yachie  Takashi Wada
Abstract:
We herein report a 36-year-old man with repeated necrotizing lymphadenitis due to MEFV gene mutations. The patient''s chief complaints were a fever and painful cervical lymphadenopathy. We diagnosed him with necrotizing lymphadenitis based on the pathological findings of the lymph nodes and the exclusion of other differential diseases. The same episode recurred four times. We speculated the involvement of autoinflammatory backgrounds and detected MEFV gene mutations of E148Q (homo), P369S, and R408Q. Considering the elevation of interleukin-18, these mutations probably played roles in the repeated necrotizing lymphadenitis.
Keywords:necrotizing lymphadenitis   MEFV gene mutation   autoinflammatory disease   inflammasome
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