H00962 | |
H number | H00962 |
Name | RIDDLE syndrome |
Description | 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. |
Category | Immune system disease |
Network | nt06506(H00962) Double-strand break repair |
Gene | RNF168 [HSA:165918] [KO:K20779] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Disorder of DNA repair system |
Other DBs | ICD-11: 4A01.31 ICD-10: D82.8 MeSH: C567453 OMIM: 611943 |
Reference | PMID:21426255 AUTHORS Blundred RM, Stewart GS TITLE DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome. JOURNAL Expert Rev Clin Immunol 7:169-85 (2011) DOI:10.1586/eci.10.93 PMID:19372751 AUTHORS Stewart GS TITLE Solving the RIDDLE of 53BP1 recruitment to sites of damage. JOURNAL Cell Cycle 8:1532-8 (2009) DOI:10.4161/cc.8.10.8351 PMID:19203578 AUTHORS 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 TITLE The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. JOURNAL Cell 136:420-34 (2009) DOI:10.1016/j.cell.2008.12.042 PMID:17940005 AUTHORS Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM TITLE RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. JOURNAL Proc Natl Acad Sci U S A 104:16910-5 (2007) DOI:10.1073/pnas.0708408104 |