{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T04:32:23Z","timestamp":1772771543824,"version":"3.50.1"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Children\u2019s Mercy Kansas City New Investigator Award","award":["500583.15"],"award-info":[{"award-number":["500583.15"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Phenotypic variations of chromosome 22q11.2 deletion syndrome (22qDS) have unclear explanations. T cell lymphopenia in 22qDS related to varying degrees of thymic hypoplasia contributes to the phenotypic heterogeneity. No phenotype correlation with genotype or deletion size is known for lymphopenia. We investigated gene expression in human T cells of participants with and without 22qDS and T cells of participants with 22qDS with low or normal T cells. Peripheral blood was collected from participants aged 5\u20138 y. Immune function was checked. RNA sequencing was completed on isolated T cells, and differential gene expression profiles of T cells between 22qDS and healthy control subjects were established. A total of 360 genes were differentially expressed (q &amp;lt; 0.05) between T cells of patients with 22qDS (n = 13) and healthy control subjects (n = 6) (log2 fold change range, \u22122.0747, 15.6724). We compared gene expression between participants with 22qDS with low (n = 7) and normal T cell counts (n = 6), finding 94 genes that were differentially expressed (q &amp;lt; 0.05) (log2 fold change range, \u22124.5445, 5.1297). Twenty-nine genes correlated with T cell counts and markers CD3, CD4, CD8, and CD45RA+CD4 (R \u2265 0.8). We found significantly differentially expressed genes in participants with 22qDS compared with healthy control subjects and in participants with 22qDS with low T cell counts compared with those with normal T cell counts. Several enriched pathways suggest a role of T cells in defective communication between T cells and the innate immune system in 22qDS. Among these, the liver X receptor\/retinoid X receptor pathway was noted to show several differentially expressed genes affecting participants with 22qDS compared with healthy control subjects and more so those with low T cell counts than in those with normal T cell counts.<\/jats:p>","DOI":"10.4049\/jimmunol.2100346","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T17:22:55Z","timestamp":1666286575000},"page":"874-885","source":"Crossref","is-referenced-by-count":5,"title":["T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome"],"prefix":"10.1093","volume":"209","author":[{"given":"Nikita R","family":"Raje","sequence":"first","affiliation":[{"name":"Division of Allergy, Immunology, Pulmonary and Sleep Medicine, Children\u2019s Mercy Kansas City , Kansas City, MO"},{"name":"Department of Pediatrics, Children\u2019s Mercy Kansas City, University of Missouri Kansas City School of Medicine , Kansas City, MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janelle R","family":"Noel-MacDonnell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Mercy Kansas City, University of Missouri Kansas City School of Medicine , Kansas City, MO"},{"name":"Department of Health Services and Outcomes Research, Children\u2019s Mercy Kansas City , Kansas City, MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6207-1862","authenticated-orcid":false,"given":"Katherine A","family":"Shortt","sequence":"additional","affiliation":[{"name":"Precision Genomics, Intermountain Healthcare , St. George, UT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9601","authenticated-orcid":false,"given":"Nicole M","family":"Gigliotti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Mercy Kansas City, University of Missouri Kansas City School of Medicine , Kansas City, MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia A","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Mercy Kansas City, University of Missouri Kansas City School of Medicine , Kansas City, MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3170-2585","authenticated-orcid":false,"given":"Daniel P","family":"Heruth","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Mercy Kansas City, University of Missouri Kansas City School of Medicine , Kansas City, MO"},{"name":"The Children\u2019s Mercy Research Institute, Children\u2019s Mercy Kansas City , Kansas City, MO"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,9,1]]},"reference":[{"key":"2025021008281633200_r1","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1136\/jmg.35.9.789-a","article-title":"The annual incidence of DiGeorge\/velocardiofacial syndrome","volume":"35","author":"Devriendt","year":"1998","journal-title":"J. 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