{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,9]],"date-time":"2026-11-09T19:53:51Z","timestamp":1794254031332,"version":"4.9.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T00:00:00Z","timestamp":1650240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Immune dysregulation, polyendocrinopathy, enteropathy, X\u2010linked (IPEX) syndrome is a monogenic immunodeficiency disease caused by forkhead box protein3 (<jats:italic>FOXP3<\/jats:italic>) mutation. The kidney is commonly involved in IPEX syndrome, but there were few studies focusing on renal involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing was used to identify the novel <jats:italic>FOXP3<\/jats:italic> mutation. We collected clinical manifestations, kidney pathology, and gene function of the proband. All the previously published studies with IPEX\u2010associated renal involvement were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report a late\u2010onset Chinese child with IPEX\u2010associated membranous nephropathy (MN). Type 1 diabetes mellitus and nephrotic\u2010range proteinuria are the main clinical manifestations. Whole\u2010exome sequencing shows a novel c.766A &gt; G mutation in the <jats:italic>FOXP3<\/jats:italic> gene. The literature review indicates that renal manifestations include proteinuria, microscopic hematuria, and renal insufficiency. MN is the most common pathological type in children with IPEX, followed by tubulointerstitial nephritis, interstitial nephritis, minimal change nephrotic syndrome, and membranoproliferative glomerulonephritis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In summary, we report a novel <jats:italic>FOXP3<\/jats:italic> mutation (c.766A &gt; G) with MN stage II in IPEX. In a literature review, MN is the most common pathological type in children with IPEX and proteinuria is the most prevalent clinical feature. IPEX should be considered in the differential diagnosis of MN patients with related endocrine diseases and immune disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1945","type":"journal-article","created":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T07:04:06Z","timestamp":1650265446000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel <scp><i>FOXP3<\/i><\/scp> mutation in a Chinese child with <scp>IPEX<\/scp>\u2010associated membranous nephropathy"],"prefix":"10.1002","volume":"10","author":[{"given":"Liwen","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Nephrology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Chongqing Key Laboratory of Pediatrics  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders National Clinical Research Center for Child Health and Disorders China International Science 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