Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

RIDDLE Syndrome (RNF168)

  • Svetlana O. SharapovaEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_160-1

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...

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References

  1. 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.CrossRefGoogle Scholar
  2. 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.CrossRefGoogle Scholar
  3. 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.CrossRefGoogle Scholar
  4. 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.CrossRefGoogle Scholar
  5. 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.CrossRefGoogle Scholar
  6. 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.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Research DepartmentBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyMinskBelarus

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA