{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T17:54:14Z","timestamp":1782237254747,"version":"3.54.5"},"reference-count":12,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:p>Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities of T regulatory cells. Affected males typically die in infancy or early childhood from a variety of autoimmune conditions. Reports of recurrent pregnancy loss of male fetuses in these families have been accompanied by descriptions of nonimmune fetal hydrops, with or without additional fetal anomalies. Here, we report an additional family affected by IPEX with a novel mutation leading to recurrent second trimester fetal hydrops and intrauterine fetal demise with associated fetal anomalies. This report underscores how careful genetic and pathologic analysis of even midtrimester fetuses can provide important information impacting an entire family. It also further substantiates the use of broad, symptom-targeted genetic screening panels in cases of recurrent pregnancy loss even in the absence of a remarkable pedigree.<\/jats:p>","DOI":"10.1177\/1093526619834809","type":"journal-article","created":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T20:11:43Z","timestamp":1551298303000},"page":"465-471","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Recurrent Non Immune Fetal Hydrops Associated With IPEX                     Syndrome"],"prefix":"10.1177","volume":"22","author":[{"given":"Elisheva","family":"Shanes","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory\r                Medicine,\r                NorthShore\r                University HealthSystem, Evanston,\r                Illinois"},{"name":"Pritzker School of Medicine, University\r                of Chicago, Chicago, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5890-0202","authenticated-orcid":false,"given":"Lauren","family":"Propst","sequence":"additional","affiliation":[{"name":"Center for Maternal and Fetal Health,\r                NorthShore\r                University HealthSystem, Evanston,\r                Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W","family":"Ouyang","sequence":"additional","affiliation":[{"name":"Pritzker School of Medicine, University\r                of Chicago, Chicago, Illinois"},{"name":"Department of Obstetrics and Gynecology,\r                NorthShore\r                University HealthSystem, Evanston,\r                Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda M","family":"Ernst","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory\r                Medicine,\r                NorthShore\r                University HealthSystem, Evanston,\r                Illinois"},{"name":"Pritzker School of Medicine, University\r                of Chicago, Chicago, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,2,27]]},"reference":[{"key":"bibr1-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80573-8"},{"key":"bibr2-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1038\/83713"},{"key":"bibr3-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1038\/83707"},{"key":"bibr4-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2014.12.007"},{"key":"bibr5-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38144"},{"key":"bibr6-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2015.09.006"},{"key":"bibr7-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37401"},{"key":"bibr8-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)60773-5"},{"key":"bibr9-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5142"},{"key":"bibr10-1093526619834809","unstructured":"Greenwood Genetic Center. Hydrops,\n                        non-immune sequencing panel. https:\/\/www.ggc.org\/test-finder-item\/hydrops-non-immune-87-gene-sequencing-panel#.\n                        Accessed December 6, 2018."},{"key":"bibr11-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2002.01940.x"},{"key":"bibr12-1093526619834809","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-04-214593"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526619834809","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1093526619834809","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526619834809","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:05:36Z","timestamp":1777694736000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1093526619834809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,27]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1177\/1093526619834809"],"URL":"https:\/\/doi.org\/10.1177\/1093526619834809","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,27]]}}}