| H00285 | |
| H番号 | H00285 |
| 名称 | ブラウ症候群 |
| 概要 | Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | nt06521(H00285) NLR signaling |
| 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: 4A60.Y MeSH: C538157 OMIM: 186580 |
| 文献 | PMID:4056967 著者 Blau EB タイトル Familial granulomatous arthritis, iritis, and rash. 雑誌 J Pediatr 107:689-93 (1985) DOI:10.1016/S0022-3476(85)80394-2 PMID:11528384 著者 Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP タイトル CARD15 mutations in Blau syndrome. 雑誌 Nat Genet 29:19-20 (2001) DOI:10.1038/ng720 PMID:18718560 著者 Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A タイトル Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 雑誌 Autoimmun Rev 8:228-32 (2009) DOI:10.1016/j.autrev.2008.07.034 |