Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

@article{Kanazawa2005EarlyonsetSA,
  title={Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.},
  author={Nobuo Kanazawa and Ikuo Okafuji and Naotomo Kambe and Ryuta Nishikomori and Mami Nakata-Hizume and Sonoko Nagai and Akihiko Fuji and Takenosuke Yuasa and Akira Manki and Yoshihiko Sakurai and Masamichi Nakajima and Hiroko Kobayashi and Ikuma Fujiwara and Hiroyuki Tsutsumi and Atsushi Utani and Chikako Nishigori and Toshio Heike and Tatsutoshi Nakahata and Yoshiki Miyachi},
  journal={Blood},
  year={2005},
  volume={105 3},
  pages={
          1195-7
        }
}
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. Among 10 EOS cases retrospectively collected in Japan, heterozygous missense… CONTINUE READING
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