uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Molecular and Morphological Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Molecular tools.
Show others and affiliations
2014 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 9, no 12, e114901- p.Article in journal (Refereed) Published
Abstract [en]

Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to infection. Due to the variety of clinical symptoms and the complexity of current diagnostic procedures, accurate diagnosis of PID is often difficult in daily clinical practice. Thanks to the advent of "next generation'' sequencing technologies and target enrichment methods, the development of multiplex diagnostic assays is now possible. In this study, we applied a selector-based target enrichment assay to detect disease-causing mutations in 179 known PID genes. The usefulness of this assay for molecular diagnosis of PID was investigated by sequencing DNA from 33 patients, 18 of which had at least one known causal mutation at the onset of the experiment. We were able to identify the disease causing mutations in 60% of the investigated patients, indicating that the majority of PID cases could be resolved using a targeted sequencing approach. Causal mutations identified in the unknown patient samples were located in STAT3, IGLL1, RNF168 and PGM3. Based on our results, we propose a stepwise approach for PID diagnostics, involving targeted resequencing, followed by whole transcriptome and/or whole genome sequencing if causative variants are not found in the targeted exons.

Place, publisher, year, edition, pages
2014. Vol. 9, no 12, e114901- p.
National Category
Immunology in the medical area
Identifiers
URN: urn:nbn:se:uu:diva-242873DOI: 10.1371/journal.pone.0114901ISI: 000347146700066OAI: oai:DiVA.org:uu-242873DiVA: diva2:785491
Available from: 2015-02-03 Created: 2015-02-02 Last updated: 2017-12-05Bibliographically approved

Open Access in DiVA

fulltext(258 kB)207 downloads
File information
File name FULLTEXT01.pdfFile size 258 kBChecksum SHA-512
1550831355d5dc2d02e30bc3a22f0a3a7e74036441eea0d70f8589bd7f9bad32f8ae339fa10061184900f2d4a80594a7d48ffca7929fde4761643d6befc530b0
Type fulltextMimetype application/pdf

Other links

Publisher's full text

Authority records BETA

Moens, Lotte N.Falk-Sörqvist, ElinNilsson, Mats

Search in DiVA

By author/editor
Moens, Lotte N.Falk-Sörqvist, ElinNilsson, Mats
By organisation
Molecular and Morphological PathologyMolecular tools
In the same journal
PLoS ONE
Immunology in the medical area

Search outside of DiVA

GoogleGoogle Scholar
Total: 207 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 706 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf