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With increased accessibility of next\u2010generation sequencing (NGS), the rate of discovery of genetic causes for PID has increased exponentially. Identification of an underlying monogenic diagnosis provides important clinical benefits for patients with the potential to alter treatments, facilitate genetic counselling, and pre\u2010implantation diagnostics. We investigated a NGS PID panel of 242 genes within clinical care across a range of PID phenotypes. We also evaluated\n                    <jats:italic>Phenomizer<\/jats:italic>\n                    to predict causal genes from human phenotype ontology (HPO) terms. Twenty\u2010seven participants were recruited, and a total of 15 reportable variants were identified in 48% (13\/27) of the participants. The panel results had implications for treatment in 37% (10\/27) of participants.\n                    <jats:italic>Phenomizer<\/jats:italic>\n                    identified the genes harbouring variants from HPO terms in 33% (9\/27) of participants. This study shows the clinical efficacy that genetic testing has in the care of PID. However, it also highlights some of the disadvantages of gene panels in the rapidly moving field of PID genomics and current challenges in HPO term assignment for PID.\n                  <\/jats:p>","DOI":"10.1111\/cge.13163","type":"journal-article","created":{"date-parts":[[2017,10,27]],"date-time":"2017-10-27T09:36:38Z","timestamp":1509096998000},"page":"647-655","source":"Crossref","is-referenced-by-count":65,"title":["Clinical efficacy of a next\u2010generation sequencing gene panel for primary immunodeficiency diagnostics"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0095-2514","authenticated-orcid":false,"given":"W.","family":"Rae","sequence":"first","affiliation":[{"name":"Department of Immunology University Hospital Southampton NHSFT  Southampton UK"},{"name":"Southampton National Institute for Health Research Clinical Research Facility University Hospital Southampton NHSFT  Southampton 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