Article
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
Blood - 1 Feb 2005
Kanazawa Nobuo, Okafuji Ikuo, Kambe Naotomo, Nishikomori Ryuta, Nakata-Hizume Mami, Nagai Sonoko, Fuji Akihiko, Yuasa Takenosuke, Manki Akira, Sakurai Yoshihiko, Nakajima Mitsuru, Kobayashi Hiroko, Fujiwara Ikuma, Tsutsumi Hiroyuki, Utani Atsushi, Nishigori Chikako, Heike Toshio, Nakahata Tatsutoshi, Miyachi Yoshiki
Abstract excerpt
Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, joints, and eyes. However, no direct evidence has been shown for the possible common origin of these 2 diseases. Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients....
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