Article
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
Blood - 15 Feb 2008
Saito Megumu, Nishikomori Ryuta, Kambe Naotomo, Fujisawa Akihiro, Tanizaki Hideaki, Takeichi Kyoko, Imagawa Tomoyuki, Iehara Tomoko, Takada Hidetoshi, Matsubayashi Tadashi, Tanaka Hiroshi, Kawashima Hisashi, Kawakami Kiyoshi, Kagami Shinji, Okafuji Ikuo, Yoshioka Takakazu, Adachi Souichi, Heike Toshio, Miyachi Yoshiki, Nakahata Tatsutoshi
Abstract excerpt
Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of systemic autoinflammatory disorders in which the majority of patients have mutations in the cold-induced autoinflammatory syndrome (CIAS)1 gene. Despite having indistinguishable clinical features, some patients lack CIAS1 mutations by...
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