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RIDDLE syndrome

Definition:

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.

References:

[1]. Grant S Stewart, et al. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):16910-5. [Content Brief]

[2]. Grant S Stewart, et al. Solving the RIDDLE of 53BP1 recruitment to sites of damage. Cell Cycle. 2009 May 15;8(10):1532-8. [Content Brief]

[3]. Grant S Stewart, et al. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell. 2009 Feb 6;136(3):420-34. [Content Brief]

[4]. Rachel M Blundred, et al. DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome. Expert Rev Clin Immunol. 2011 Mar;7(2):169-85. [Content Brief]

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