Utility of next generation sequencing in clinical primary immunodeficiencies.


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… (More)
DOI: 10.1007/s11882-014-0468-y


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