A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis.

doi:10.2177/jsci.39.72

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Article

A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis.

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology - 1 Jan 2016

Ogita Chie, Matsui Kiyoshi, Kisida Dai, Kakudou Mariko, Yazaki Masahide, Nakamura Akinori, Azuma Kouta, Tsuboi Kazuyuki, Abe Takeo, Yokoyama Yuichi, Furukawa Tetsuya, Maruoka Momo, Tamura Masao, Yoshikawa Takahiro, Saito Atsushi, Nishioka Aki, Sekiguchi Masahiro, Azuma Naoto, Kitano Masayasu, Tsunoda Shinichiro, Hashimoto-Tamaoki Tomoko, Sano Hajime

Abstract excerpt

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease caused by Mediterranean FeVergene (MEFV) mutations on Chromosome 16, and characterized by periodic fever of and serositis. FMF is the result of gain-of-function mutations in pyrin that lead to interleukin-1β activation. FMF can be classified as "typical" and "atypical" types based on clinical finding and genetic screening. Although MEFV...

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PMID: 27181238
DOI: 10.2177/jsci.39.72

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MEFV

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