| H00962 | |
| H番号 | H00962 |
| 名称 | RIDDLE 症候群 |
| 概要 | RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | nt06506(H00962) Double-strand break repair |
| 病因遺伝子 | RNF168 [HSA:165918] [KO:K20779] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Disorder of DNA repair system |
| リンク | ICD-11: 4A01.31 ICD-10: D82.8 MeSH: C567453 OMIM: 611943 |
| 文献 | PMID:21426255 著者 Blundred RM, Stewart GS タイトル DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome. 雑誌 Expert Rev Clin Immunol 7:169-85 (2011) DOI:10.1586/eci.10.93 PMID:19372751 著者 Stewart GS タイトル Solving the RIDDLE of 53BP1 recruitment to sites of damage. 雑誌 Cell Cycle 8:1532-8 (2009) DOI:10.4161/cc.8.10.8351 PMID:19203578 著者 Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D タイトル The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. 雑誌 Cell 136:420-34 (2009) DOI:10.1016/j.cell.2008.12.042 PMID:17940005 著者 Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM タイトル RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. 雑誌 Proc Natl Acad Sci U S A 104:16910-5 (2007) DOI:10.1073/pnas.0708408104 |