{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T02:46:17Z","timestamp":1774665977081,"version":"3.50.1"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T00:00:00Z","timestamp":1643760000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disease characterized by multiple immune disorders. Different mutations of the <jats:italic>FOXP3<\/jats:italic> gene may lead to distinct clinical manifestations. Here, we present a rare case of IPEX syndrome caused by a novel variant of <jats:italic>FOXP3<\/jats:italic>. Clinical manifestations include autoimmune hemolysis, bronchiectasis, diarrhea, and proteinuria but without diabetes or other endocrine disorders. The diagnosis of IPEX syndrome was confirmed by whole-exon sequencing. Supportive treatment did not ameliorate the patient\u2019s symptoms, while immunosuppressive therapy showed a promising efficacy. The patient we reported will improve the understanding of renal manifestations in IPEX syndrome.<\/jats:p>","DOI":"10.3389\/fgene.2021.752775","type":"journal-article","created":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T04:51:35Z","timestamp":1643777495000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report"],"prefix":"10.3389","volume":"12","author":[{"given":"Ruijuan","family":"Ke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daliang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,2,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1111\/nyas.13011","article-title":"From IPEX Syndrome to FOXP3 Mutation: a Lesson on Immune Dysregulation","volume":"1417","author":"Bacchetta","year":"2018","journal-title":"Ann. 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