RIDDLE syndrome: Difference between revisions
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==History== |
==History== |
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This syndrome was first described by |
This syndrome was first described by Stewart et al. 2007.<ref>{{cite journal|author=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=Proceedings of the National Academy of Sciences USA|volume=104|pages=16910-16915|doi=10.1073/pnas.0708408104|pmid=17940005|pmc=PMC2040433}}</ref><ref>{{cite journal|author=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|volume=136|pages=420-434|doi=10.1016/j.cell.2008.12.042|pmid=19203578}}</ref> |
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==References== |
==References== |
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Revision as of 19:24, 9 July 2020
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| RIDDLE syndrome | |
|---|---|
| Other names | Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome |
 | |
| Riddle syndrome is inherited in an autosomal recessive pattern. | |
RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and LEarning difficulties.
Presentation
The features of this condition include:[citation needed]
- Facial dysmorphism
- Short stature
- Mild motor control and learning difficulties
- Mild ataxia
- Microcephaly
- Normal intelligence
- Conjunctival telangiectasia
- Recurrent sinus infections
- Decreased serum IgA
- Late onset of pulmonary fibrosis
- Increased alpha-fetoprotein
- Increased radiosensitivity
Genetics
This condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion.The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 (3q29) on the Crick (minus strand).[citation needed]
Diagnosis
Differential diagnosis
- Ataxia telangectasia
- Artemis deficiency
- Immunodeficiency 26 (PKCS gene deficiency)
- LIG4 syndrome
- Nijmegen breakage syndrome
- Severe combined immunodeficiency with Cernunnos
- X-linked agammaglobulinemia
Management
![[icon]](/enwiki/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (January 2018) |
Epidemiology
This condition is rare. Only four cases have been described up to 2017.[1]
History
This syndrome was first described by Stewart et al. 2007.[2][3]
References
- ^ Pietrucha B, Heropolitańska-Pliszka E, Geffers R, Enßen J, Wieland B, Bogdanova NV, Dörk T. "Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings". Frontiers in Immunology. 8: 1683. doi:10.3389/fimmu.2017.01683. PMC 5722808. PMID 29255463.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM. "RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling". Proceedings of the National Academy of Sciences USA. 104: 16910–16915. doi:10.1073/pnas.0708408104. PMC 2040433. PMID 17940005.
{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: multiple names: authors list (link) - ^ 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. "The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage". Cell. 136: 420–434. doi:10.1016/j.cell.2008.12.042. PMID 19203578.
{{cite journal}}: CS1 maint: multiple names: authors list (link)