{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:16:47Z","timestamp":1789514207839,"version":"build-2803163510"},"reference-count":51,"publisher":"American Society for Clinical Investigation","issue":"12","funder":[{"DOI":"10.13039\/100000060","name":"NIAID","doi-asserted-by":"crossref","award":["AI-061093"],"award-info":[{"award-number":["AI-061093"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000060","name":"NIAID","doi-asserted-by":"crossref","award":["AI-086037"],"award-info":[{"award-number":["AI-086037"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000060","name":"NIAID","doi-asserted-by":"crossref","award":["AI-48693"],"award-info":[{"award-number":["AI-48693"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","award":["various"],"award-info":[{"award-number":["various"]}],"id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Howard Hughes Medical Institute, and the French National Research Agency","award":["ANR 14-CE15-0009-01"],"award-info":[{"award-number":["ANR 14-CE15-0009-01"]}]},{"DOI":"10.13039\/100000052","name":"NIH Office of the Director","doi-asserted-by":"crossref","award":["GM 007280"],"award-info":[{"award-number":["GM 007280"]}],"id":[{"id":"10.13039\/100000052","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000052","name":"NIH Office of the Director","doi-asserted-by":"crossref","award":["GM008353"],"award-info":[{"award-number":["GM008353"]}],"id":[{"id":"10.13039\/100000052","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["061093,AI-086037,AI-48693,T32 GM 007280,INSERM"],"award-info":[{"award-number":["061093,AI-086037,AI-48693,T32 GM 007280,INSERM"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institutes of Health; French National Research Agency; INSERM","award":["AI-061093,AI-086037,AI-48693,GM 007280,GM008353"],"award-info":[{"award-number":["AI-061093,AI-086037,AI-48693,GM 007280,GM008353"]}]},{"name":"See below","award":["see below"],"award-info":[{"award-number":["see below"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,5]]},"DOI":"10.1172\/jci99629","type":"journal-article","created":{"date-parts":[[2018,11,4]],"date-time":"2018-11-04T18:00:52Z","timestamp":1541354452000},"page":"5489-5504","source":"Crossref","is-referenced-by-count":53,"title":["Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies"],"prefix":"10.1172","volume":"128","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1873-0418","authenticated-orcid":false,"given":"Patrick","family":"Maffucci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4351-1516","authenticated-orcid":false,"given":"Jose","family":"Chavez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9624-4568","authenticated-orcid":false,"given":"Thomas J.","family":"Jurkiw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7853-8626","authenticated-orcid":false,"given":"Patrick J.","family":"O\u2019Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6334-5266","authenticated-orcid":false,"given":"Jordan K.","family":"Abbott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul R.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austen","family":"Worth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8335-0262","authenticated-orcid":false,"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3013-0362","authenticated-orcid":false,"given":"Kerstin","family":"Felgentreff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Cortes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5240-3555","authenticated-orcid":false,"given":"Bertrand","family":"Boisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Radigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7209-6257","authenticated-orcid":false,"given":"Aur\u00e9lie","family":"Cobat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Dinakar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Ehlayel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tawfeg","family":"Ben-Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin W.","family":"Gelfand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7782-4169","authenticated-orcid":false,"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Cunningham-Rundles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2018,11,5]]},"reference":[{"issue":"4","key":"B1","doi-asserted-by":"crossref","DOI":"10.1186\/gb-2002-3-4-reviews3005","article-title":"ATP-dependent DNA ligases","volume":"3","author":"Martin","year":"2002","journal-title":"Genome Biol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80147-1"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1172\/JCI26121"},{"issue":"1","key":"B4","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-016-0520-1","article-title":"DNA ligase IV syndrome; a review","volume":"11","author":"Altmann","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.4161\/cc.10.21.18094"},{"issue":"1","key":"B6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1093\/nar\/gki190","article-title":"Translocation of XRCC1 and DNA ligase IIIalpha from centrosomes to chromosomes in response to DNA damage in mitotic human cells","volume":"33","author":"Okano","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2007.06.014"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-04-3055"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/S0921-8777(97)00050-5"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.03.024"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/S0921-8777(00)00033-1"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1521630113"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1521597113"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1038\/nature03082"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1126\/science.186.4166.790"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)91266-B"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90450-Q"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.14.1.310"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(83)90177-X"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/4.5.559"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-110711-155534"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3739"},{"key":"B23","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1242\/jcs.1995.Supplement_19.10","article-title":"Recognition and processing of damaged DNA","volume":"19","author":"Lindahl","year":"1995","journal-title":"J Cell Sci Suppl"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01730-08"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.248831"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0059505"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0266-5"},{"issue":"22","key":"B28","first-page":"6202","article-title":"Altered formation of DNA in human cells treated with inhibitors of DNA topoisomerase II (etoposide and teniposide)","volume":"49","author":"L\u00f6nn","year":"1989","journal-title":"Cancer Res"},{"issue":"Pt 7","key":"B29","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1242\/jcs.115.7.1551","article-title":"DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability","volume":"115","author":"Bentley","year":"2002","journal-title":"J Cell Sci"},{"issue":"14","key":"B30","first-page":"4065","article-title":"Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene","volume":"62","author":"Harrison","year":"2002","journal-title":"Cancer Res"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1016\/j.pbiomolbio.2015.01.007"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.3121\/cmr.4.3.236"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1111\/j.1348-0421.2012.00435.x"},{"issue":"1","key":"B34","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/j.1600-065X.2006.00478.x","article-title":"Development and selection of gammadelta T cells","volume":"215","author":"Xiong","year":"2007","journal-title":"Immunol Rev"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199001113220201"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25221"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25178"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0464-9"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0121-5"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv437"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90910-9"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1038\/nri.2016.28"},{"key":"B43","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2016.00220","article-title":"Genetic diagnosis using whole exome sequencing in common variable immunodeficiency","volume":"7","author":"Maffucci","year":"2016","journal-title":"Front Immunol"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1512234"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2006.339"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1110(94)00013-3"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-62703-691-7_2"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2003.07.003"},{"key":"B51","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2015.00020","article-title":"\u03b3\u03b4 T Lymphocytes in the diagnosis of human T cell receptor immunodeficiencies","volume":"6","author":"Garcill\u00e1n","year":"2015","journal-title":"Front Immunol"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/99629\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T13:15:46Z","timestamp":1691068546000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/99629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,5]]},"references-count":51,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2018,10,22]]},"published-print":{"date-parts":[[2018,10,22]]}},"alternative-id":["10.1172\/JCI99629"],"URL":"https:\/\/doi.org\/10.1172\/jci99629","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.734368632.793555740","asserted-by":"object"}]},"ISSN":["0021-9738","1558-8238"],"issn-type":[{"value":"0021-9738","type":"print"},{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,5]]}}}