Article
Idiopathic multicentric Castleman disease with novel heterozygous Ile729Met mutation in exon 10 of familial Mediterranean fever gene.
Rheumatology (Oxford, England) - 5 Jan 2021
Endo Yushiro, Koga Tomohiro, Otaki Hiroki, Sasaki Daisuke, Sumiyoshi Remi, Furukawa Kaori, Tanaka Yoshimasa, Katsunori Yanagihara, Kawakami Atsushi
Abstract excerpt
OBJECTIVE: While the aetiology of idiopathic multicentric Castleman disease (iMCD) remains unclear, the involvement of autoinflammatory mechanisms has been suggested. Herein we report a Japanese patient with iMCD with a novel heterozygous Ile729Met mutation in exon 10 of the Mediterranean fever (MEFV) gene. METHODS: We performed genetic analysis via targeted next-generation sequencing analysis and Sanger...
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