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Rheumatology Advance Access published online on October 23, 2009
Rheumatology, doi:10.1093/rheumatology/kep315
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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

A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene

Hidemasa Sakai1, Shusaku Ito2, Ryuta Nishikomori1, Yuuki Takaoka1, Tomoki Kawai1, Megumu Saito1, Ikuo Okafuji3, Takahiro Yasumi1, Toshio Heike1 and Tatsutoshi Nakahata1

1Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, 2Department of Dermatology, Hitachi General Hospital, Hitachi and 3Department of Pediatrics, Kobe City Medical Center General Hospital, Kobe, Japan.

Correspondence to: Ryuta Nishikomori, Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. E-mail: rnishiko@kuhp.kyoto-u.ac.jp

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SIR, We present the first case of early-onset sarcoidosis (EOS, MIM no. 609464 [OMIM] ) with a six-base deletion in the NOD2 gene, resulting in the replacement of one amino acid and the deletion of two additional amino acids. All previous mutations reported for EOS and Blau syndrome (BS, MIM no. 186580 [OMIM] ) were single-base substitutions that resulted in the replacement of a single amino acid [1–3].

The patient was a Japanese male born after an uncomplicated pregnancy and delivery. His family had no symptoms of skin lesions, arthritis or . . . [Full Text of this Article]


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