Synonyms
Definition
RIDDLE is an acronym for radiosensitivity, immunodeficiency dysmorphic features, and learning difficulties syndrome, due to mutations in the RNF168 gene. Other clinical signs of RIDDLE syndrome may include mild ataxia, microcephaly, normal intelligence, conjunctival telangiectasia, recurrent sinus infections, decreased serum IgG and IgA, increased alpha-fetoprotein (AFP), and late onset of pulmonary fibrosis.
Introduction/Background
Stewart et al. (2007) first described RIDDLE syndrome in a patient with increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. Mutations in the RNF168 gene cause an autosomal recessive form of combined immunodeficiency with syndromic features and associated with immunoglobulin deficiency and cellular radiosensitivity (Stewart et al. 2009; Devgan et al. 2011; Chinn et al. 2017; Picard et al. 2018; Pietrucha et al. 2017). The RNF168gene is...
This is a preview of subscription content, log in via an institution to check access.
References
Chinn IK, Sanders RP, Stray-Pedersen A, et al. Novel combined immune deficiency and radiation sensitivity blended phenotype in an adult with biallelic variations in ZAP70 and RNF168. Front Immunol. 2017;8:576.
Devgan SS, Sanal O, Doil C, et al. Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. Cell Death Differ. 2011;18(9):1500–6.
Picard C, Gaspar BH, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38(1):96–128.
Pietrucha B, Heropolitańska-Pliszka E, Geffers R, et al. Clinical and biological manifestation of RNF168 deficiency in two polish siblings. Front Immunol. 2017;4(8):1683.
Stewart GS, Stankovic T, Byrd PJ, et al. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci U S A. 2007;104(43):16910–5.
Stewart GS, Panier S, Townsend K, et al. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell. 2009;136(3):420–34.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2019 Springer Science+Business Media, LLC, part of Springer Nature
About this entry
Cite this entry
Sharapova, S.O. (2019). RIDDLE Syndrome (RNF168). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_160-1
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_160-1
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine