| H01309 | |
| H number | H01309 |
| Name | Sarcoidosis, early-onset |
| Description | 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. |
| Category | Immune system disease |
| Network | - |
| Gene | NOD2 [HSA:64127] [KO:K10165] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4B20 ICD-10: D86 MeSH: D012507 OMIM: 186580 |
| Reference | PMID:19467619 AUTHORS Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F TITLE NOD2-associated diseases: Bridging innate immunity and autoinflammation. JOURNAL Clin Immunol 134:251-61 (2010) DOI:10.1016/j.clim.2009.05.005 PMID:19116920 AUTHORS 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 TITLE Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. JOURNAL Arthritis Rheum 60:242-50 (2009) DOI:10.1002/art.24134 |