{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:41:00Z","timestamp":1791398460966,"version":"4.3.3"},"reference-count":49,"publisher":"American Society for Clinical Investigation","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4,17]]},"DOI":"10.1172\/jci90727","type":"journal-article","created":{"date-parts":[[2017,4,16]],"date-time":"2017-04-16T18:00:45Z","timestamp":1492365645000},"page":"1991-2006","source":"Crossref","is-referenced-by-count":146,"title":["Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency"],"prefix":"10.1172","volume":"127","author":[{"given":"Julien","family":"Cottineau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly C.","family":"Kottemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis P.","family":"Lach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young-Hoon","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"V\u00e9ly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elissa K.","family":"Deenick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomi","family":"Lazarov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Gineau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Farina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Chansel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lazaro","family":"Lorenzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Piperoglou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy S.","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziz","family":"Belkadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Itan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Boisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9294-7135","authenticated-orcid":false,"given":"Fabienne","family":"Jabot-Hanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8788-5056","authenticated-orcid":false,"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Eidenschenk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Boucherit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Aladjidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Barat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waseem","family":"Qasim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane A.","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Pollard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm H.","family":"Uhlig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Fieschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Michon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir P.","family":"Bermudez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Abel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"de Villartay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Geissmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart G.","family":"Tangye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerard","family":"Hurwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Vivier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6285-1562","authenticated-orcid":false,"given":"Agata","family":"Smogorzewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Jouanguy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600019"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1198687"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0000000000000011"},{"issue":"3","key":"B4","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/j.jaci.2013.07.020","article-title":"Natural killer cell deficiency","volume":"132","author":"Orange","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI61014"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI60224"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1101\/sqb.2013.78.019968"},{"issue":"1 Pt 1","key":"B8","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1542\/peds.113.1.136","article-title":"A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells","volume":"113","author":"Bernard","year":"2004","journal-title":"Pediatrics"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.177.12.8835"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2014.05.004"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1186\/1747-1028-1-18","article-title":"Cdc45-MCM-GINS, a new power player for DNA replication","volume":"1","author":"Aparicio","year":"2006","journal-title":"Cell Div"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1382"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2009.12.030"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2009.08.002"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.71.110601.135425"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.052308.103205"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2013.03.026"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0705558104"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1065903"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3739"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1518646112"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msq249"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.23.10528-10532.2005"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-01-136879"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb1231"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2013.02.011"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.10.8535"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.20.9363"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1038\/nature16139"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1038\/nature14285"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1126\/science.7522347"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2013.03.040"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00569-5"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1038\/nature07233"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1101\/gad.239802"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2014.09.030"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks849"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1126\/science.1083430"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-immunol-030409-101259"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.04406","article-title":"The basic leucine zipper transcription factor NFIL3 directs the development of a common innate lymphoid cell precursor","volume":"3","author":"Yu","year":"2014","journal-title":"Elife"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1038\/ni764"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1111\/j.0105-2896.2006.00343.x"},{"issue":"2","key":"B44","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1038\/nri3570","article-title":"Orchestrating B cell lymphopoiesis through interplay of IL-7 receptor and pre-B cell receptor signalling","volume":"14","author":"Clark","year":"2014","journal-title":"Nat Rev Immunol"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.08.026"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.06.049"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0177-y","article-title":"A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage\/instability syndromes","volume":"16","author":"Thiffault","year":"2015","journal-title":"BMC Med Genet"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1203734109"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.05.036"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/90727\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T13:11:21Z","timestamp":1691068281000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/90727"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,17]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5,1]]}},"alternative-id":["10.1172\/JCI90727"],"URL":"https:\/\/doi.org\/10.1172\/jci90727","relation":{},"ISSN":["0021-9738","1558-8238"],"issn-type":[{"value":"0021-9738","type":"print"},{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,17]]}}}