{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T09:10:54Z","timestamp":1789722654494,"version":"4.0.1"},"reference-count":115,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"unspecified","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Expert Rev. Mol. Med."],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"S1462399426100313_sec01\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The 22q11.2 Deletion Syndrome (22q11DS) is the most common chromosomal microdeletion disorder, characterised by a heterogeneous clinical spectrum including immunodeficiency, autoimmunity, and neuropsychiatric comorbidities. This systematic review critically appraises current evidence on autoimmunity in 22q11DS, fulfilling the need for an unbiased and comprehensive synthesis of the current literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S1462399426100313_sec02\" sec-type=\"methods\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An extensive search was conducted through PubMed, Web of Science, EMBASE, CINAHL, and the Cochrane Library using Boolean combinations of relevant keywords. Qualitative studies, abstracts, conference proceedings and non-English studies were excluded.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S1462399426100313_sec03\" sec-type=\"results\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 82 peer-reviewed studies published since 1968 were identified. We identified a total of 40 distinct autoimmune conditions involving multiple organ systems. Haematological disorders were most frequently cited, followed by autoimmune thyroid diseases and systemic autoimmune diseases. Less common conditions included coeliac\u00a0disease, psoriasis, vitiligo, alopecia areata, Raynaud\u2019s phenomenon, and vasculitis, while 19 diseases appeared only as single-case reports. Neuropsychiatric manifestations were addressed in 24 studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S1462399426100313_sec04\" sec-type=\"conclusions\">\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our review confirms that autoimmunity is a complication of 22q11DS and highlights the need for epidemiological studies across organ-systems and inclusion of ethnically diverse populations. There was substantial variation in study designs, underscoring the need for more standardised approaches and larger sample sizes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1017\/erm.2026.10031","type":"journal-article","created":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T07:57:40Z","timestamp":1767859060000},"update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":1,"title":["A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome"],"prefix":"10.1017","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-4357-2211","authenticated-orcid":false,"given":"Hidayat Y.","family":"Ogunsola","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03czfpz43","id-type":"ROR","asserted-by":"publisher"}],"name":"Emory University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7440-5632","authenticated-orcid":false,"given":"Sana","family":"Malik","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/016476m91","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Aberdeen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Rogers","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03czfpz43","id-type":"ROR","asserted-by":"publisher"}],"name":"Emory University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3259-4275","authenticated-orcid":false,"given":"Brad D.","family":"Pearce","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03czfpz43","id-type":"ROR","asserted-by":"publisher"}],"name":"Emory University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2026,1,8]]},"reference":[{"key":"S1462399426100313_r113","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.11.943"},{"key":"S1462399426100313_r81","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)80085-6"},{"key":"S1462399426100313_r77","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2021.2002835"},{"key":"S1462399426100313_r84","doi-asserted-by":"publisher","DOI":"10.3109\/13816810903426249"},{"key":"S1462399426100313_r47","doi-asserted-by":"publisher","DOI":"10.1159\/000086745"},{"key":"S1462399426100313_r28","doi-asserted-by":"publisher","DOI":"10.3390\/genes13091552"},{"key":"S1462399426100313_r60","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.03.033"},{"key":"S1462399426100313_r4","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-019-9267-z"},{"key":"S1462399426100313_r80","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2257.2003.00508.x"},{"key":"S1462399426100313_r40","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00005"},{"key":"S1462399426100313_r21","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.01730"},{"key":"S1462399426100313_r13","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10204729"},{"key":"S1462399426100313_r66","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01340-3"},{"key":"S1462399426100313_r43","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2019.00131"},{"key":"S1462399426100313_r39","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-816047-3.00014-9"},{"key":"S1462399426100313_r53","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00766-x"},{"key":"S1462399426100313_r90","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.47.91"},{"key":"S1462399426100313_r100","first-page":"530","article-title":"Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome","volume":"30","author":"Pinchas-Hamiel","year":"1994","journal-title":"Israel Journal of Medical Sciences"},{"key":"S1462399426100313_r16","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12833"},{"key":"S1462399426100313_r3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61601-8"},{"key":"S1462399426100313_r46","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.01.056"},{"key":"S1462399426100313_r94","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.52.9543"},{"key":"S1462399426100313_r2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"key":"S1462399426100313_r103","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<546::AID-AJMG4>3.0.CO;2-N"},{"key":"S1462399426100313_r62","doi-asserted-by":"publisher","DOI":"10.15586\/aei.v49i1.24"},{"key":"S1462399426100313_r57","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-1206"},{"key":"S1462399426100313_r64","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03736.x"},{"key":"S1462399426100313_r18","volume-title":"Enhancing NIH Research on Autoimmune Disease","year":"2022"},{"key":"S1462399426100313_r109","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e31828be602"},{"key":"S1462399426100313_r79","first-page":"2326","article-title":"Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome","volume":"28","author":"Davies","year":"2001","journal-title":"The Journal of Rheumatology"},{"key":"S1462399426100313_r23","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2021.07.020"},{"key":"S1462399426100313_r11","doi-asserted-by":"publisher","DOI":"10.1128\/CDLI.5.3.415-417.1998"},{"key":"S1462399426100313_r93","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000002388"},{"key":"S1462399426100313_r83","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2007.20.2.253"},{"key":"S1462399426100313_r92","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970414)69:4<356::AID-AJMG4>3.0.CO;2-J"},{"key":"S1462399426100313_r20","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2458-13-154"},{"key":"S1462399426100313_r17","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80132-6"},{"key":"S1462399426100313_r114","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2023.09.005"},{"key":"S1462399426100313_r37","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.006"},{"key":"S1462399426100313_r38","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780400307"},{"key":"S1462399426100313_r82","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1293"},{"key":"S1462399426100313_r98","first-page":"2648","article-title":"Chronic arthritis associated with chromosome deletion 22q11.2 syndrome","volume":"29","author":"Pelkonen","year":"2002","journal-title":"The Journal of Rheumatology"},{"key":"S1462399426100313_r99","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10490"},{"key":"S1462399426100313_r1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31435"},{"key":"S1462399426100313_r19","unstructured":"19. Wells, GA (2000) The Newcastle-Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses. In 3rd Symposium on Systemic Reviews: Beyond the Basics, Oxford, UK, 3-5 July 2000."},{"key":"S1462399426100313_r106","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-001-0900-x"},{"key":"S1462399426100313_r48","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2021.06.007"},{"key":"S1462399426100313_r72","first-page":"261","article-title":"Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome","volume":"13","author":"Chang","year":"2006","journal-title":"Clinical and Developmental Immunology"},{"key":"S1462399426100313_r34","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.56.10.940"},{"key":"S1462399426100313_r10","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.6.422"},{"key":"S1462399426100313_r27","first-page":"2586","article-title":"Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center","volume":"133","author":"Giardino","year":"2019","journal-title":"Blood, The Journal of the American Society of Hematology"},{"key":"S1462399426100313_r76","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01095-3"},{"key":"S1462399426100313_r69","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-019-04243-5"},{"key":"S1462399426100313_r45","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35484"},{"key":"S1462399426100313_r110","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.56.7927"},{"key":"S1462399426100313_r85","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1014249"},{"key":"S1462399426100313_r25","first-page":"Cr182-7","article-title":"Early development of immunity in diGeorge syndrome","volume":"11","author":"Sediv\u00e1","year":"2005","journal-title":"Medical Science Monitor"},{"key":"S1462399426100313_r52","doi-asserted-by":"publisher","DOI":"10.3109\/00365521.2013.855814"},{"key":"S1462399426100313_r36","doi-asserted-by":"publisher","DOI":"10.1007\/s00406-014-0546-0"},{"key":"S1462399426100313_r96","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06622.x"},{"key":"S1462399426100313_r29","first-page":"2377","article-title":"Immune biomarkers of autoimmunity in chromosome 22q11. 2 deletion syndrome","volume":"7","author":"Sullivan","year":"2019","journal-title":"The Journal of Allergy and Clinical Immunology: In Practice"},{"key":"S1462399426100313_r86","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e31821b0915"},{"key":"S1462399426100313_r6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"S1462399426100313_r44","doi-asserted-by":"publisher","DOI":"10.1002\/eji.202249840"},{"key":"S1462399426100313_r14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbi.2018.03.022"},{"key":"S1462399426100313_r115","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.4308"},{"key":"S1462399426100313_r71","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-0976-y"},{"key":"S1462399426100313_r112","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.01.008"},{"key":"S1462399426100313_r7","doi-asserted-by":"publisher","DOI":"10.1086\/515508"},{"key":"S1462399426100313_r15","doi-asserted-by":"publisher","DOI":"10.1007\/s10989-024-10666-y"},{"key":"S1462399426100313_r108","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2020.108590"},{"key":"S1462399426100313_r50","doi-asserted-by":"publisher","DOI":"10.1111\/pai.12420"},{"key":"S1462399426100313_r91","doi-asserted-by":"publisher","DOI":"10.1080\/0880010390158685"},{"key":"S1462399426100313_r32","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.328.7437.438"},{"key":"S1462399426100313_r73","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.690078"},{"key":"S1462399426100313_r33","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30984"},{"key":"S1462399426100313_r9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38319"},{"key":"S1462399426100313_r87","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12486"},{"key":"S1462399426100313_r67","doi-asserted-by":"publisher","DOI":"10.1002\/iid3.420"},{"key":"S1462399426100313_r12","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0842-z"},{"key":"S1462399426100313_r51","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20254"},{"key":"S1462399426100313_r111","doi-asserted-by":"publisher","DOI":"10.1016\/j.vaccine.2014.08.047"},{"key":"S1462399426100313_r55","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000003491"},{"key":"S1462399426100313_r78","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V122.21.4829.4829"},{"key":"S1462399426100313_r107","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2019.11.006"},{"key":"S1462399426100313_r70","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2004.17.11.1575"},{"key":"S1462399426100313_r24","doi-asserted-by":"publisher","DOI":"10.1111\/apa.16737"},{"key":"S1462399426100313_r35","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2013.07.019"},{"key":"S1462399426100313_r65","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.12.536"},{"key":"S1462399426100313_r41","first-page":"835","volume-title":"Genotype and Phenotype Analysis at the 22q11 Schizophrenia Susceptibility Locus","volume":"61","author":"Karayiorgou","year":"1996"},{"key":"S1462399426100313_r8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.9.721"},{"key":"S1462399426100313_r59","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61336"},{"key":"S1462399426100313_r63","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2017.12.011"},{"key":"S1462399426100313_r74","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.708625"},{"key":"S1462399426100313_r54","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.118534"},{"key":"S1462399426100313_r88","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ20-0717"},{"key":"S1462399426100313_r97","first-page":"e11510","article-title":"Recurrent Evans syndrome in a patient with 22q11.2 deletion syndrome: An uncommon Hematological presentation","volume":"12","author":"Oliveras-Cordero","year":"2020","journal-title":"Cureus"},{"key":"S1462399426100313_r89","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.119448"},{"key":"S1462399426100313_r58","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.771100"},{"key":"S1462399426100313_r31","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2019.03.014"},{"key":"S1462399426100313_r56","doi-asserted-by":"publisher","DOI":"10.1111\/cei.13429"},{"key":"S1462399426100313_r26","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2023.2022-11-3"},{"key":"S1462399426100313_r30","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2023.109302"},{"key":"S1462399426100313_r22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3083.2007.01949.x"},{"key":"S1462399426100313_r95","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2782"},{"key":"S1462399426100313_r102","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.07.003"},{"key":"S1462399426100313_r49","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00854-y"},{"key":"S1462399426100313_r75","doi-asserted-by":"publisher","DOI":"10.4081\/pr.2010.e13"},{"key":"S1462399426100313_r5","doi-asserted-by":"publisher","DOI":"10.3390\/genes11090977"},{"key":"S1462399426100313_r101","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80087-1"},{"key":"S1462399426100313_r42","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-022-01783-5"},{"key":"S1462399426100313_r61","doi-asserted-by":"publisher","DOI":"10.1111\/sji.12809"},{"key":"S1462399426100313_r68","doi-asserted-by":"publisher","DOI":"10.1159\/000102157"},{"key":"S1462399426100313_r105","first-page":"334","article-title":"Association of juvenile idiopathic arthritis and digeorge syndrome; a case report","volume":"24","author":"Salehzadeh","year":"2014","journal-title":"Iranian Journal of Pediatrics"},{"key":"S1462399426100313_r104","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200x.2004.01940.x"}],"container-title":["Expert Reviews in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1462399426100313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T06:57:03Z","timestamp":1784271423000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1462399426100313\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":115,"alternative-id":["S1462399426100313"],"URL":"https:\/\/doi.org\/10.1017\/erm.2026.10031","relation":{},"ISSN":["1462-3994"],"issn-type":[{"value":"1462-3994","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]},"assertion":[{"value":"\u00a9 The Author(s), 2026. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http:\/\/creativecommons.org\/licenses\/by\/4.0), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}],"article-number":"e12"}}