Early-onset sarcoidosis and NOD2: Summary on genetic analysis of Japanese 10 cases

DOI 10 References
  • Kambe Naotomo
    Department of Dermatology, Kyoto University Graduate School of Medicine
  • Nishikomori Ryuta
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Kanazawa Nobuo
    Department of Dermatology, Kyoto University Graduate School of Medicine
  • Okafuji Ikuo
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Fujisawa Akihiro
    Department of Dermatology, Kyoto University Graduate School of Medicine
  • Heike Toshio
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Nakahata Tatsutoshi
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Miyachi Yoshiki
    Department of Dermatology, Kyoto University Graduate School of Medicine

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Other Title
  • 若年発症サルコイドーシスとＮＯＤ２―本邦報告１０例の遺伝子解析のまとめ―

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Early-onset sarcoidosis (EOS) is juvenile-onset systemic granulomatosis that mainly affects skin, joints and eyes. Recent discovery of NOD2 mutations in the familial systemic granulomatosis, Blau syndrome, encouraged us to investigate NOD2 mutations in EOS patients reported in Japan. Among 10 cases, heterozygous missense mutations were found in 9 cases; 4 showed R334W that has been typically reported in Blau syndrome, and 5 showed novel H496L, M513T, T605P, N670K, and D382E. All these 6 variants of NOD2 showed increased nuclear factor(NF)-kappaB activity without its ligand, such as muramyl dipeptide. These findings indicate that the majority of EOS cases reported in Japan shows the genetic etiology of NOD2 mutations that cause constitutive NF-kappaB activation.

Journal

  • Ensho Saisei

    Ensho Saisei 25 (3), 169-172, 2005

    The Japanese Society of Inflammation and Regeneration

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