Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations

• Published in: Internal Medicine Vol. 61; no. 7; pp. 1105 - 1110
• Main Authors: Yamamura, Yuta, Furuichi, Kengo, Toyama, Tadashi, Oshima, Megumi, Ogura, Hisayuki, Sato, Koichi, Nakagawa, Shiori, Miyagawa, Taro, Kitajima, Shinji, Hara, Akinori, Iwata, Yasunori, Sakai, Norihiko, Shimizu, Miho, Ikeda, Hiroko, Toma, Tomoko, Takasawa, Kazuya, Yachie, Akihiro, Wada, Takashi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.04.2022; Japan Science and Technology Agency
• Subjects: Adult; autoinflammatory disease; Case Report; Fever; Humans; inflammasome; Interleukin 18; Internal medicine; Lymph Nodes; Lymphadenitis; Lymphadenopathy; Male; MEFV gene mutation; Mutation; Mutation - genetics; necrotizing lymphadenitis; Pain; Pyrin - genetics; MEFV gene mutation; necrotizing lymphadenitis; autoinflammatory disease; inflammasome
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.7882-21

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.