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Rheumatology Advance Access originally published online on April 9, 2009
Rheumatology 2009 48(6):706-707; doi:10.1093/rheumatology/kep061
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© The Author 2009. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15

Satoshi Okada1, Nakao Konishi1, Miyuki Tsumura1, Kenichiro Shirao1, Shin’ichiro Yasunaga2, Hidemasa Sakai3, Ryuta Nishikomori3, Yoshihiro Takihara2 and Masao Kobayashi1

1Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, 2Department of Stem Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima and 3Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Correspondence to: Satoshi Okada, Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. E-mail: s-okada@pg8.so-net.ne.jp

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SIR, Early-onset sarcoidosis (EOS) and Blau syndrome (BS) are rare multi-organ granulomatous inflammatory disorders clinically characterized by the distinct triad of skin, joint and eye lesions without any apparent cardio-pulmonary involvement [1]. Gain-of-function mutations in CARD15 (NM_022162 [GenBank] ) cause EOS and/or BS (EOS/BS) [2–4], but not the development of adult-type sarcoidosis [5,6]. We identified a novel heterozygous gain-of-function mutation, G481D, in CARD15 from a patient with EOS, who was suffering from recurrent . . . [Full Text of this Article]


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