Article
Augmentation of Stimulator of Interferon Genes-Induced Type I Interferon Production in COPA Syndrome.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Nov 2021
Kato Takashi, Yamamoto Masaki, Honda Yoshitaka, Orimo Takashi, Sasaki Izumi, Murakami Kohei, Hemmi Hiroaki, Fukuda-Ohta Yuri, Isono Kyoichi, Takayama Saki, Nakamura Hidenori, Otsuki Yoshiro, Miyamoto Toshiaki, Takita Junko, Yasumi Takahiro, Nishikomori Ryuta, Matsubayashi Tadashi, Izawa Kazushi, Kaisho Tsuneyasu
Abstract excerpt
OBJECTIVE: Coatomer subunit alpha (COPA) syndrome, also known as autoinflammatory interstitial lung, joint, and kidney disease, is caused by heterozygous mutations in COPA. We identified a novel COPA variant in 4 patients in one family. We undertook this study to elucidate whether and how the variant causes manifestations of COPA syndrome by studying these 4 patients and by analyzing results from a gene-targeted...
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