{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:04:00Z","timestamp":1790420640455,"version":"4.1.0"},"reference-count":44,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T00:00:00Z","timestamp":1673913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81872719"],"award-info":[{"award-number":["81872719"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Turner syndrome (TS) is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations. However, the immunological profile of TS with different X chromosome origins is incompletely understood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, transcriptomic expression profiles of 26 TS (45,X) samples and 10 normal karyotype (46,XX) samples derived from GSE46687 cohort were employed. Differentially expressed immune-related genes (DEIRGs) between monosomy X TS patients with different X chromosome origins and normal females were investigated respectively. Subsequently, functional annotation, protein-protein interaction (PPI) network analysis, immunocyte infiltration evaluation, tissue-specific gene expression and Weighted gene co expression network analysis (WGCNA) were performed to explore the immunological characteristic in TS with different X chromosome origins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>34 and 52 DEIRGs were respectively identified in 45,Xm and 45,Xp patients compared with normal individuals. The identified DEIRGs in Xm group were significantly enriched in pathways associated with cancer. In Xp TS patients, the most enriched signals were immune response-related. A majority of genes involved in the above pathways were downregulated. PPI analysis identified 4 (<jats:italic>FLT3, IL3RA, CSF2RA, PIK3R3<\/jats:italic>) and 6 (<jats:italic>PDGFRB<\/jats:italic>, <jats:italic>CSF2<\/jats:italic>, <jats:italic>IL5<\/jats:italic>, <jats:italic>PRL<\/jats:italic>, <jats:italic>CCL17<\/jats:italic> and <jats:italic>IL2<\/jats:italic>)hub genes for Xm and Xp groups, respectively. CIBERSORT results showed that the proportion of Tregs in the Xm group and the naive B cells and resting NK cells in the Xp group significantly increased, respectively. Tissue-specific expression results indicated that BDCA4+_dentritic cells and CD19+ B cells were the prominent specific expressed tissues in Xp patients. Results of WGCNA support the above analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study aims at studying the immunological characteristics of TS with different X chromosome origins. Pathways in cancer in Xm group and immune response in Xp group were suppressed. 4 and 6 hub IRGs were identified as biomarkers for Xm and Xp patients, respectively. B cells played important roles in Xp patients. Further studies are needed to draw more attention to the functional validation of these hub genes and the roles of B cells.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2023.1024244","type":"journal-article","created":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T05:24:32Z","timestamp":1673933072000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins"],"prefix":"10.3389","volume":"14","author":[{"given":"Xiao","family":"Qi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingdong","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujia","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuyan","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzhen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2011.11.015","article-title":"Autoimmunity and turner\u2019s syndrome","volume":"11","author":"Lleo","year":"2012","journal-title":"Autoimmun Rev"},{"key":"B2","doi-asserted-by":"publisher","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with turner syndrome: proceedings from the 2016 Cincinnati international turner syndrome meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-019-0224-4","article-title":"Turner syndrome: mechanisms and management","volume":"15","author":"Gravholt","year":"2019","journal-title":"Nat Rev Endocrinol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02807.x","article-title":"Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in turner syndrome","volume":"66","author":"El-Mansoury","year":"2007","journal-title":"Clin Endocrinol (Oxf)."},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0926","article-title":"Approach to the patient with turner syndrome","volume":"95","author":"Davenport","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.3109\/09513599809024955","article-title":"Pregnancy in patients with turner\u2019s syndrome: six new cases and review of literature","volume":"12","author":"Tarani","year":"1998","journal-title":"Gynecol Endocrinol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra030360","article-title":"Turner\u2019s syndrome","volume":"351","author":"Virginia","year":"2004","journal-title":". 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