{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T10:40:41Z","timestamp":1778928041327,"version":"3.51.4"},"reference-count":71,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T00:00:00Z","timestamp":1589587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010443","name":"RACP Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010443","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunol Cell Biol"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autoimmune disease is a substantial cause of morbidity and is strongly influenced by genetic risk. Extensive efforts have characterized the overall genetic basis of many autoimmune diseases, typically by investigation of common variants. While these common variants have modest effects and may cumulatively predispose to disease, it is also increasingly apparent that rare variants have significantly greater effect on phenotype and are likely to contribute to autoimmune disease. Recent advances have illustrated the next fundamental step in elucidating the genetic basis of autoimmunity, moving beyond association to demonstrate the functional consequences of these variants.<\/jats:p>","DOI":"10.1111\/imcb.12339","type":"journal-article","created":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T15:53:41Z","timestamp":1587484421000},"page":"490-499","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Rare genetic variants in systemic autoimmunity"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3973-5114","authenticated-orcid":false,"given":"Simon H","family":"Jiang","sequence":"first","affiliation":[{"name":"Centre for Personalised Immunology NHMRC Centre for Research Excellence Acton ACT 2601 Australia"},{"name":"Department of Immunology and Infectious Disease John Curtin School of Medical Research Australian National University Acton ACT 2601 Australia"},{"name":"Department of Renal Medicine The Canberra Hospital Garran ACT 2601 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice","family":"Stanley","sequence":"additional","affiliation":[{"name":"Centre for Personalised Immunology NHMRC Centre for Research Excellence Acton ACT 2601 Australia"},{"name":"Department of Immunology and Infectious Disease John Curtin School of Medical Research Australian National University Acton ACT 2601 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9799-0298","authenticated-orcid":false,"given":"Carola G","family":"Vinuesa","sequence":"additional","affiliation":[{"name":"Centre for Personalised Immunology NHMRC Centre for Research Excellence Acton ACT 2601 Australia"},{"name":"Department of Immunology and Infectious Disease John Curtin School of Medical Research Australian National University Acton ACT 2601 Australia"},{"name":"China Australia Centre for Personalised Immunology Shanghai Renji Hospital Jiao Tong University Shanghai Huangpu Qu 200333 China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-065X.2010.00945.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri.2017.24"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2019.09.004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/ar2718"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02242"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20042251"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.3175"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10238-004-0051-2"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jim.2010.06.009"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2006.08.010"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1912196"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119073"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20061446"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00351161"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/ar3844"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/83713"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1075958"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.01.033"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20191336"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41590-018-0182-3"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08494"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.029"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1156409"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13835"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.38800"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-019-0127-1"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1418631112"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21039"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330309"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.6.990"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81110-1"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2011.39"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050843"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.40158"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1089\/jir.2011.0045"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2091"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.38824"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.05.034"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.975"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-01966-7"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciimmunol.aav7501"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/intimm\/14.4.411"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.79"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.81"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0707865"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2011.62"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2009.39"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.20999"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/342385a0"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30613"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1610528"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.166.1.6"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214121"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-26573-4"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-019-1623-4"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1158\/2326-6066.CIR-15-0009"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30320"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2008.106393"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.012"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.12089"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx407"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-10242-9"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12170"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2011-200085"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.395"},{"key":"e_1_2_7_68_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0906474106"},{"key":"e_1_2_7_69_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1402736"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0061044"},{"key":"e_1_2_7_71_1","doi-asserted-by":"publisher","DOI":"10.1111\/1756-185X.12768"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02496"}],"container-title":["Immunology &amp; Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fimcb.12339","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/imcb.12339","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/imcb.12339","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/imcb.12339","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T08:07:28Z","timestamp":1693987648000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/imcb.12339"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,16]]},"references-count":71,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/imcb.12339"],"URL":"https:\/\/doi.org\/10.1111\/imcb.12339","archive":["Portico"],"relation":{},"ISSN":["0818-9641","1440-1711"],"issn-type":[{"value":"0818-9641","type":"print"},{"value":"1440-1711","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,16]]},"assertion":[{"value":"2020-02-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}