DISEASE: RIDDLE syndrome

Entry

H00962                      Disease

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

Brite

Human diseases [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H00962  RIDDLE syndrome
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00962  RIDDLE syndrome

Network

nt06506 Double-strand break repair

Gene

RNF168 [HSA:165918] [KO:K20779]

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

Reference

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

Reference

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

Reference

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

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (9)   

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