Title

Utility of next generation sequencing in clinical primary immunodeficiencies.

Document Type

Article

Publication Date

10-1-2014

Identifier

DOI: 10.1007/s11882-014-0468-y; PMCID: PMC4582650

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.

Journal Title

Current allergy and asthma reports

Volume

14

Issue

10

First Page

468

Last Page

468

MeSH Keywords

Diagnosis, Differential; Exome; Genetic Markers; Genetic Testing; Genome, Human; High-Throughput Nucleotide Sequencing; Humans; Immunologic Deficiency Syndromes; Polymorphism, Single Nucleotide; Sequence Analysis, DNA

Keywords

Whole genome sequencing, Whole exome sequencing, Primary immunodeficiency, Next generation sequencing, Single nucleotide variation, Single nucleotide polymorphism

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