{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T20:40:10Z","timestamp":1793047210964,"version":"4.5.0"},"reference-count":36,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6160","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2013,11,15]]},"abstract":"<jats:title>Answers from Exomes<\/jats:title>\n                  <jats:p>\n                    Exome sequencing, which targets only the protein-coding regions of the genome, has the potential to identify the underlying genetic causes of rare inherited diseases.\n                    <jats:bold>\n                      Angulo\n                      <jats:italic>et al.<\/jats:italic>\n                    <\/jats:bold>\n                    (p.\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6160\" page=\"866\" related-article-type=\"in-this-issue\" vol=\"342\" xlink:href=\"10.1126\/science.1243292\">866<\/jats:related-article>\n                    , published online 17 October; see Perspective by\n                    <jats:bold>\n                      <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6160\" page=\"814\" related-article-type=\"in-this-issue\" vol=\"342\" xlink:href=\"10.1126\/science.1246760\">Conley and Fruman<\/jats:related-article>\n                    <\/jats:bold>\n                    ) performed exome sequencing of individuals from seven unrelated families with severe, recurrent respiratory infections. The patients carried the same mutation in the gene coding for the catalytic subunit of phosphoinositide 3-kinase \u03b4 (PI3K\u03b4). The mutation caused aberrant activation of this kinase, which plays a key role in immune cell signaling. Drugs inhibiting PI3K\u03b4 are already in clinical trials for other disorders.\n                  <\/jats:p>","DOI":"10.1126\/science.1243292","type":"journal-article","created":{"date-parts":[[2013,10,17]],"date-time":"2013-10-17T22:25:20Z","timestamp":1382048720000},"page":"866-871","source":"Crossref","is-referenced-by-count":618,"title":["Phosphoinositide 3-Kinase \u03b4 Gene Mutation Predisposes to Respiratory Infection and Airway Damage"],"prefix":"10.1126","volume":"342","author":[{"given":"Ivan","family":"Angulo","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Cambridge, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Vadas","sequence":"additional","affiliation":[{"name":"Medical Research Council, Laboratory of Molecular Biology, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabien","family":"Gar\u00e7on","sequence":"additional","affiliation":[{"name":"The 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