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Article

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Journal of clinical immunology - 1 Aug 2021

Honda Yoshitaka, Maeda Yukako, Izawa Kazushi, Shiba Takeshi, Tanaka Takayuki, Nakaseko Haruna, Nishimura Keisuke, Mukoyama Hiroki, Isa-Nishitani Masahiko, Miyamoto Takayuki, Nihira Hiroshi, Shibata Hirofumi, Hiejima Eitaro, Ohara Osamu, Takita Junko, Yasumi Takahiro, Nishikomori Ryuta

Abstract excerpt

PURPOSE: Pathogenic MEFV variants cause pyrin-associated autoinflammatory diseases (PAADs), which include familial Mediterranean fever (FMF), FMF-like disease, and pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). The diagnosis of PAADs is established by clinical phenotypic and genetic analyses. However, the pathogenicity of most MEFV variants remains controversial, as they have not been...

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PMID: 33733382
DOI: 10.1007/s10875-021-01021-7

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