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01-10-2014 | Pediatric Allergy and Immunology (JM Portnoy and CE Ciaccio, Section Editors)

Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

Authors: Nikita Raje, Sarah Soden, Douglas Swanson, Christina E. Ciaccio, Stephen F. Kingsmore, Darrell L. Dinwiddie

Published in: Current Allergy and Asthma Reports | Issue 10/2014

Abstract

Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) of genomes or exomes of informative families has played a central role in the discovery of novel PID genes. Furthermore, NGS has the potential to transform clinical molecular testing for established PIDs, allowing all PID differential diagnoses to be tested at once, leading to increased diagnostic yield, while decreasing both the time and cost of obtaining a molecular diagnosis. Given that treatment of PID varies by disease gene, early achievement of a molecular diagnosis is likely to enhance treatment decisions and improve patient outcomes.

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Title: Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies
Authors: Nikita Raje
Sarah Soden
Douglas Swanson
Christina E. Ciaccio
Stephen F. Kingsmore
Darrell L. Dinwiddie
Publication date: 01-10-2014
Publisher: Springer US
Published in: Current Allergy and Asthma Reports / Issue 10/2014
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI: https://doi.org/10.1007/s11882-014-0468-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

Abstract

Keynote webinar | Spotlight on medication adherence

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