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.
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.
