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Blood, 1 February 2005, Vol. 105, No. 3, pp. 1195-1197. Prepublished online as a Blood First Edition Paper on September 30, 2004; DOI 10.1182/blood-2004-07-2972. This Article Full Text (PDF) All Versions of this Article: 2004-07-2972v1 105/3/1195    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Kanazawa, N. Articles by Miyachi, Y. Search for Related Content PubMed PubMed Citation Articles by Kanazawa, N. Articles by Miyachi, Y. Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted August 2, 2004 Accepted September 27, 2004 Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-B activation: common genetic etiology with Blau syndrome Nobuo Kanazawa*, Ikuo Okafuji, Naotomo Kambe, Ryuta Nishikomori, Mami Nakata-Hizume, Sonoko Nagai, Akihiko Fuji, Takenosuke Yuasa, Akira Manki, Yoshihiko Sakurai, Mitsuru Nakajima, Hiroko Kobayashi, Ikuma Fujiwara, Hiroyuki Tsutsumi, Atsushi Utani, Chikako Nishigori, Toshio Heike, Tatsutoshi Nakahata, and Yoshiki Miyachi Department of Dermatology, Graduate School of Medicine, Kyoto University, Kyoto, Japan Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan Department of Internal Medicine, Holy Spirit Hospital, Nagoya, Japan Yuasa Ophthalmic Clinic, Osaka, Japan Department of Pediatrics, Okayama University Medical School, Okayama, Japan Department of Pediatrics, Nara Medical University, Nara Kashihara, Japan Department of Internal Medicine II, Fukushima Medical University School of Medicine, Fukushima, Japan Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan Department of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan * Corresponding author; email: nkanazaw{at}kuhp.kyoto-u.ac.jp. 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 ever been shown for the possible common origin of these two 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 mutations were found in 9 cases; 4 showed a C1000T (R334W in amino acid change) that has been reported in BS, 4 showed novel A1487T (H496L), T1538C (M513T), A1813C (T605P) and C2010A (N670K), and one case showed double C1146G (D382E)/G1834A (A612T) mutations on different alleles. All these 6 variants of CARD15 showed increased basal nuclear factor (NF)-B activity. These findings indicate that the majority of EOS and BS share the common genetic etiology of CARD15 mutations that cause constitutive NF-B activation. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Early-onset sarcoidosis gets the nod Mathias Chamaillard, Christine McDonald, and Gabriel Nuñez Blood 2005 105: 912. [Full Text] [PDF] This article has been cited by other articles: H. Sakai, S. Ito, R. Nishikomori, Y. Takaoka, T. Kawai, M. Saito, I. Okafuji, T. Yasumi, T. Heike, and T. Nakahata A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene Rheumatology, October 23, 2009; (2009) kep315v1. [Full Text] [PDF] O. Penack, O. M. Smith, A. Cunningham-Bussel, X. Liu, U. Rao, N. Yim, I.-K. Na, A. M. Holland, A. Ghosh, S. X. Lu, et al. NOD2 regulates hematopoietic cell function during graft-versus-host disease J. Exp. Med., September 28, 2009; 206(10): 2101 - 2110. [Abstract] [Full Text] [PDF] S. 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