| H01309 | |
| H番号 | H01309 |
| 名称 | 若年性サルコイドーシス |
| 概要 | Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding NOD2 in humans have been associated with EOS. NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | NOD2 [HSA:64127] [KO:K10165] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4B20 ICD-10: D86 MeSH: D012507 OMIM: 186580 |
| 文献 | PMID:19467619 著者 Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F タイトル NOD2-associated diseases: Bridging innate immunity and autoinflammation. 雑誌 Clin Immunol 134:251-61 (2010) DOI:10.1016/j.clim.2009.05.005 PMID:19116920 著者 Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T タイトル Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. 雑誌 Arthritis Rheum 60:242-50 (2009) DOI:10.1002/art.24134 |