| H01748 | |
| H番号 | H01748 |
| 名称 | NLRC4 異常症 |
| 概要 | The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC). AIFEC is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | NLRC4 [HSA:58484] [KO:K12805] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A6Y ICD-10: D89.8 OMIM: 616050 |
| 文献 | PMID:25217959 著者 Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R タイトル An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. 雑誌 Nat Genet 46:1140-6 (2014) DOI:10.1038/ng.3089 PMID:25217960 著者 Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP タイトル Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. 雑誌 Nat Genet 46:1135-9 (2014) DOI:10.1038/ng.3066 PMID:28957823 著者 Romberg N, Vogel TP, Canna SW タイトル NLRC4 inflammasomopathies. 雑誌 Curr Opin Allergy Clin Immunol 17:398-404 (2017) DOI:10.1097/ACI.0000000000000396 |