{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T23:36:47Z","timestamp":1790465807314,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,2,24]],"date-time":"2015-02-24T00:00:00Z","timestamp":1424736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health & Welfare, Republic of Korea","award":["HI12C0014"],"award-info":[{"award-number":["HI12C0014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Immune dysregulation, polyendocrinopathy, enteropathy, <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked (<jats:styled-content style=\"fixed-case\">IPEX<\/jats:styled-content>) syndrome (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 304790) is a rare hereditary disorder of the immune regulatory system caused by <jats:italic><jats:styled-content style=\"fixed-case\">FOXP<\/jats:styled-content>3<\/jats:italic> mutations. The clinical features of this syndrome include a wide spectrum of severe autoimmune diseases and renal involvement, mostly due to tubulointerstitial diseases, in some patients. Glomerulopathy of membranous nephropathy (<jats:styled-content style=\"fixed-case\">MN<\/jats:styled-content>) and minimal change nephrotic syndrome (<jats:styled-content style=\"fixed-case\">MCNS<\/jats:styled-content>), however, have also been reported. We encountered two children with <jats:styled-content style=\"fixed-case\">IPEX<\/jats:styled-content> syndrome from the same family. Interestingly, they had different glomerular lesions: one had <jats:styled-content style=\"fixed-case\">MN<\/jats:styled-content> and the other had <jats:styled-content style=\"fixed-case\">MCNS<\/jats:styled-content>. Herein we describe the cases of these siblings and review the possible mechanisms for the development of two different renal lesions.<\/jats:p>","DOI":"10.1111\/ped.12570","type":"journal-article","created":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T04:23:50Z","timestamp":1424838230000},"source":"Crossref","is-referenced-by-count":30,"title":["Familial <scp>IPEX<\/scp> syndrome: Different glomerulopathy in two siblings"],"prefix":"10.1111","volume":"57","author":[{"given":"Eujin","family":"Park","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Jin","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Il","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Severance Children's Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beom Jin","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pathology Severance Children's Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyeon Joo","family":"Jeong","sequence":"additional","affiliation":[{"name":"Department of Pathology Severance Children's Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoung Bun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology Seoul National University Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoung Chul","family":"Moon","sequence":"additional","affiliation":[{"name":"Department of Pathology Seoul National University Hospital  Seoul Korea"},{"name":"Kidney Research Institute, Medical Research Center Seoul National University College of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee Gyung","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital  Seoul Korea"},{"name":"Research Coordination Center for Rare Diseases Seoul National University Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Il\u2010Soo","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital  Seoul Korea"},{"name":"Kidney Research Institute, Medical Research Center Seoul National University College of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae Il","family":"Cheong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital  Seoul Korea"},{"name":"Research Coordination Center for Rare Diseases Seoul National University Hospital  Seoul Korea"},{"name":"Kidney Research Institute, Medical Research Center Seoul National University College of Medicine  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0105-2896.2005.00231.x"},{"key":"e_1_2_5_3_1","first-page":"89017","article-title":"IPEX as a result of mutations in FOXP3","volume":"2007","author":"Vliet HJ","year":"2007","journal-title":"Clin. 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