{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T05:23:46Z","timestamp":1776835426617,"version":"3.51.2"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2014,6,9]],"date-time":"2014-06-09T00:00:00Z","timestamp":1402272000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100006458","name":"Children's Hospital of Philadelphia Institutional Development Award","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018535","name":"Cotswold Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018535","id-type":"DOI","asserted-by":"publisher"}]},{"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\/100000002","name":"National Institutes of Health (NIH) grant","doi-asserted-by":"publisher","award":["AI-079731"],"award-info":[{"award-number":["AI-079731"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,6,9]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Common variable immunodeficiency (CVID) has been associated recently with a dramatic increase in total copy number variation burden, the cause of which is unclear. In order to explore further the origin and clinical relevance of this finding, we quantified the total genomic copy number variation (CNV) burden in affected patients and evaluated clinical details in relationship to total CNV burden. No correlation was found between total CNV burden and either patient age or time elapsed since symptom onset, and higher total burden did not correlate with incidence of malignancy or other subphenotypes. These findings suggest that the increased CNV burden is static and intrinsic to CVID as a disease.<\/jats:p>","DOI":"10.1111\/cei.12255","type":"journal-article","created":{"date-parts":[[2013,12,13]],"date-time":"2013-12-13T06:52:08Z","timestamp":1386917528000},"page":"269-271","source":"Crossref","is-referenced-by-count":20,"title":["Burden of copy number variation in common variable immunodeficiency"],"prefix":"10.1093","volume":"177","author":[{"given":"M","family":"Keller","sequence":"first","affiliation":[{"name":"The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Glessner","sequence":"additional","affiliation":[{"name":"The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Resnick","sequence":"additional","affiliation":[{"name":"Institute of Immunology and Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Perez","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Chapel","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Lucas","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K E","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Cunningham-Rundles","sequence":"additional","affiliation":[{"name":"Institute of Immunology and Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J S","family":"Orange","sequence":"additional","affiliation":[{"name":"Section of Immunology, Allergy, and Rheumatology, Department of Pediatric Medicine, Texas Children's Hospital, Houston, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2014,6,9]]},"reference":[{"key":"2021122010051714000_cei12255-bib-0001","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/B978-0-12-385991-4.00002-7","article-title":"\u2018A rose is a rose is a rose\u2019, but CVID is not CVID common variable immune deficiency (CVID), what do we know in 2011?","volume":"111","author":"Yong","year":"2011","journal-title":"Adv Immunol"},{"key":"2021122010051714000_cei12255-bib-0002","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.ajhg.2012.04.015","article-title":"Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity","volume":"90","author":"Lopez-Herrera","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2021122010051714000_cei12255-bib-0003","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/j.jaci.2011.02.039","article-title":"Genome-wide association identifies diverse causes of common variable immunodeficiency","volume":"127","author":"Orange","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"2021122010051714000_cei12255-bib-0004","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1182\/blood-2011-09-377945","article-title":"Morbidity and mortality in common variable immune deficiency over 4 decades","volume":"119","author":"Resnick","year":"2012","journal-title":"Blood"},{"key":"2021122010051714000_cei12255-bib-0005","doi-asserted-by":"crossref","first-page":"e12260","DOI":"10.1371\/journal.pone.0012260","article-title":"Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID","volume":"5","author":"Offer","year":"2010","journal-title":"PLOS One"},{"key":"2021122010051714000_cei12255-bib-0006","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.imbio.2007.10.018","article-title":"Chromosomal radiosensitivity in patients with common variable immunodeficiency","volume":"213","author":"Aghamohammadi","year":"2008","journal-title":"Immunobiology"},{"key":"2021122010051714000_cei12255-bib-0007","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1006\/clin.1997.4478","article-title":"In vitro chromosomal radiosensitivity in common variable immune deficiency","volume":"86","author":"Palanduz","year":"1998","journal-title":"Clin Immunol Immunopathol"}],"container-title":["Clinical and Experimental Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcei.12255","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/cei\/article-pdf\/177\/1\/269\/41792499\/cei12255.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/cei\/article-pdf\/177\/1\/269\/41792499\/cei12255.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T16:25:49Z","timestamp":1641054349000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/cei\/article\/177\/1\/269\/6421274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,9]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,6,9]]},"published-print":{"date-parts":[[2014,6,9]]}},"URL":"https:\/\/doi.org\/10.1111\/cei.12255","relation":{},"ISSN":["0009-9104","1365-2249"],"issn-type":[{"value":"0009-9104","type":"print"},{"value":"1365-2249","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2014,7]]},"published":{"date-parts":[[2014,6,9]]}}}