{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T14:35:15Z","timestamp":1782311715011,"version":"3.54.5"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009417","name":"Care-for-Rare Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009417","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.clim.2020.108376","type":"journal-article","created":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T20:20:04Z","timestamp":1583180404000},"page":"108376","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"special_numbering":"C","title":["Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community"],"prefix":"10.1016","volume":"214","author":[{"given":"Amos J.","family":"Simon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi Cohen","family":"Golan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atar","family":"Lev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tali","family":"Stauber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ido","family":"Somekh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"AbuZaitun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eran","family":"Eyal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitzan","family":"Kol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekrem","family":"Unal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ninette","family":"Amariglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gideon","family":"Rechavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2020.108376_bb0005","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1007\/s10875-018-0489-8","article-title":"Use of genetic testing for primary immunodeficiency patients","volume":"38","author":"Heimall","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0010","doi-asserted-by":"crossref","first-page":"2854","DOI":"10.1002\/eji.201444669","article-title":"Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies","volume":"44","author":"Picard","year":"2014","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0015","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3389\/fimmu.2017.00847","article-title":"Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies","volume":"8","author":"Seleman","year":"2017","journal-title":"Front. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0020","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1097\/MOP.0000000000000699","article-title":"New primary immunodeficiency diseases: context and future","volume":"30","author":"Yu","year":"2018","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.clim.2020.108376_bb0025","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10875-017-0465-8","article-title":"The 2017 IUIS phenotypic classification for primary immunodeficiencies","volume":"38","author":"Bousfiha","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0030","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/j.jaci.2016.08.003","article-title":"Exome and genome sequencing for inborn errors of immunity","volume":"138","author":"Meyts","year":"2016","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0035","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.jaci.2013.08.021","article-title":"Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies","volume":"134","author":"Platt","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0040","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.iac.2015.07.002","article-title":"Severe combined immunodeficiency disorders","volume":"35","author":"Chinn","year":"2015","journal-title":"Immunol. Allergy Clin. N. Am."},{"key":"10.1016\/j.clim.2020.108376_bb0045","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.jaci.2013.08.032","article-title":"Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies","volume":"133","author":"Nijman","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0050","doi-asserted-by":"crossref","first-page":"531","DOI":"10.3389\/fimmu.2014.00531","article-title":"Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs","volume":"5","author":"Stoddard","year":"2014","journal-title":"Front. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0055","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2020.108376_bb0060","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jaci.2016.05.042","article-title":"Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders","volume":"139","author":"Stray-Pedersen","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0065","doi-asserted-by":"crossref","first-page":"3146","DOI":"10.3389\/fimmu.2018.03146","article-title":"Comprehensive genetic results for primary immunodeficiency disorders in a highly consanguineous population","volume":"9","author":"Al-Herz","year":"2018","journal-title":"Front. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0070","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1084\/jem.20151618","article-title":"Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects","volume":"213","author":"Simon","year":"2016","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.clim.2020.108376_bb0075","doi-asserted-by":"crossref","first-page":"4036","DOI":"10.4049\/jimmunol.1700460","article-title":"Disruption of thrombocyte and T lymphocyte development by a mutation in ARPC1B","volume":"199","author":"Somech","year":"2017","journal-title":"J. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0080","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1301296","article-title":"A congenital neutrophil defect syndrome associated with mutations in VPS45","volume":"369","author":"Vilboux","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2020.108376_bb0085","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1038\/gim.2015.142","article-title":"Molecular diagnostic experience of whole-exome sequencing in adult patients","volume":"18","author":"Posey","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.clim.2020.108376_bb0090","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1016\/j.jaci.2017.06.049","article-title":"Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency","volume":"141","author":"Abolhassani","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0095","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/cei.12105","article-title":"The German national registry for primary immunodeficiencies (PID)","volume":"173","author":"Gathmann","year":"2013","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0100","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.clim.2010.02.021","article-title":"The French national registry of primary immunodeficiency diseases","volume":"135","author":"C.T.F.P.s. group","year":"2010","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0105","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13223-016-0169-2","article-title":"Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand","volume":"12","author":"Woon","year":"2016","journal-title":"Allergy, Asthma Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0110","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.iac.2018.08.009","article-title":"Genetic testing to diagnose primary immunodeficiency disorders and to identify targeted therapy","volume":"39","author":"Heimall","year":"2019","journal-title":"Immunol. Allergy Clin. N. Am."},{"key":"10.1016\/j.clim.2020.108376_bb0115","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.coi.2014.05.004","article-title":"Discovery of single-gene inborn errors of immunity by next generation sequencing","volume":"30","author":"Conley","year":"2014","journal-title":"Curr. Opin. Immunol."},{"key":"10.1016\/j.clim.2020.108376_bb0120","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1159\/000357710","article-title":"Consanguinity and primary immunodeficiencies","volume":"77","author":"Al-Herz","year":"2014","journal-title":"Hum. Hered."},{"key":"10.1016\/j.clim.2020.108376_bb0125","doi-asserted-by":"crossref","first-page":"5473","DOI":"10.1073\/pnas.1418631112","article-title":"Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants","volume":"112","author":"Belkadi","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.clim.2020.108376_bb0130","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1056\/NEJMoa1714458","article-title":"Effect of genetic diagnosis on patients with previously undiagnosed disease","volume":"379","author":"Splinter","year":"2018","journal-title":"N. Engl. J. Med."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S152166161930539X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S152166161930539X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:02:30Z","timestamp":1761494550000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S152166161930539X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":26,"alternative-id":["S152166161930539X"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2020.108376","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2020.108376","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108376"}}