Article
Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation.
Clinical rheumatology - 1 Jul 2022
Itamiya Takahiro, Komai Toshihiko, Kanda Hiroko, Nagafuchi Yasuo, Chang Hyangri, Shibata Shota, Ishiura Hiroyuki, Shoda Hirofumi, Toda Tatsushi, Fujio Keishi
Abstract excerpt
There have been hundreds of reports on mutations in the NLRP3 gene related to NLRP3-associated autoinflammatory disease, but few of these mutations have occurred as both germline and somatic mosaic mutations. In this case-based review, we report a 68-year-old man with an NLRP3-associated autoinflammatory disease. He developed secondary amyloidosis, including a renal and colorectal presentation in his 50 s....
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