{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T08:48:42Z","timestamp":1782204522598,"version":"3.54.5"},"reference-count":49,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100006458","name":"Children's Hospital of Philadelphia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>22q11.2 Deletion syndrome is one of the most common inborn errors of immunity. There is a large body of literature supporting alterations to T cells as a result of thymic hypoplasia. Additional studies have supported changes to B cell behavior which have been presumed to be secondary to impaired T cell help. Yet, there remains a significant gap in our understanding of the impact of this syndrome on non\u2010T cells.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study utilized a cohort of 46 participants with 22q11.2 deletion syndrome and 18 age and sex\u2010matched controls. 5\u2032 single\u2010cell RNAseq was performed to characterize cell populations and altered gene expression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All cell types exhibited RNA expression differences between patients and controls. Across T cells, B cells, NK cells and monocytes, there were no conserved modules either up or down regulated; however, all cell types exhibited differences between controls and patients. Among na\u00efve, memory, and terminal effector CD4 T cells, we observed a number of signatures related to proliferation as manifested by translation initiation and ribosomal component gene expression that were increased in patients. Patients who had had cardiac surgery had altered CD8 T cells with lower na\u00efve CD8 T cells compared to patients who did not have cardiac surgery and increased gene expression in modules defined by oxidative phosphorylation and interferon exposure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Surprisingly, all cell types examined exhibited differences between patients and controls. Monocytes and NK cells, the cell types least likely to be directly impacted by thymic effects, had unique patterns of gene expression, although both were highly altered in patients. This suggests a widespread impact of the deletion that may be related to direct and indirect effects of reduced gene dosage.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pai.70237","type":"journal-article","created":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:26:02Z","timestamp":1761985562000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Single cell RNA\u2010seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non\u2010T cells"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3439-6042","authenticated-orcid":false,"given":"Katherine","family":"Beigel","sequence":"first","affiliation":[{"name":"Department of Biomedical and Health Informatics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouf","family":"Alsaati","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Maurer","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5229-4122","authenticated-orcid":false,"given":"Montana","family":"Knight","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Henrickson","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0681-7279","authenticated-orcid":false,"given":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program at the Centre for Addiction and Mental Health, and Dalglish Family 22q Clinic, University Health Network University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen E.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Health Informatics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,1]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.9778\/cmajo.20200294"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-017-0308-6"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20501"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-007-9074-2"},{"issue":"2","key":"e_1_2_10_8_1","first-page":"23","article-title":"Clinical manifestations of deletion 22q11.2 syndrome (DiGeorge\/Velo\u2010cardio\u2010facial syndrome)","volume":"7","author":"Digilio M","year":"2005","journal-title":"Images Paediatr Cardiol"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.012"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.006"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-011-9569-8"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.6.422"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2010.04.011"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35484"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38319"},{"key":"e_1_2_10_16_1","first-page":"116","article-title":"Congenital absence of the thymus and its immunological consequences: concurrance with congenital hypothyroidism","volume":"4","author":"DiGeorge AM","year":"1968","journal-title":"Birth Defects"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80207-3"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-08-2824"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1067\/mai.2003.165"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01123-2"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.01.041"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btac582"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr260"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1000"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3083.2007.01949.x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.2006.00409.x"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.14"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.01.011"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202201096"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392-021-00728-8"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/acel.14301"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-022-05470-9"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2016.91"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.359305"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2025.1504496"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.01.037"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI84997"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00854-y"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0403-9"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2015.12.004"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2021.06.007"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cyto.2012.06.285"},{"key":"e_1_2_10_43_1","doi-asserted-by":"crossref","unstructured":"BrettnerL Geiler\u2010SamerotteK.Single\u2010cell heterogeneity in ribosome content and the consequences for the growth laws. bioRxiv.2024.","DOI":"10.1101\/2024.04.19.590370"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.585168"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90895"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2013.01.011"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-024-01689-7"},{"key":"e_1_2_10_48_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.636720"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01154-9"},{"key":"e_1_2_10_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101088"}],"container-title":["Pediatric Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pai.70237","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pai.70237","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pai.70237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T08:05:03Z","timestamp":1782201903000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pai.70237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":49,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1111\/pai.70237"],"URL":"https:\/\/doi.org\/10.1111\/pai.70237","archive":["Portico"],"relation":{},"ISSN":["0905-6157","1399-3038"],"issn-type":[{"value":"0905-6157","type":"print"},{"value":"1399-3038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"2025-07-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70237"}}