{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T09:47:29Z","timestamp":1774691249551,"version":"3.50.1"},"reference-count":0,"publisher":"Sociedad Chilena de Pediatria","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Chil Pediatr"],"abstract":"<jats:p>Introducci\u00f3n: El s\u00edndrome IPEX (inmunodesregulacio\u0301n, poliendocrinopati\u0301a y enteropati\u0301a autoinmune ligada a X) causado por mutaciones en el gen FOXP3, se caracteriza por diarrea prolongada, alteraciones endocrinol\u00f3gicas y dermatitis. El tratamiento consiste en la administraci\u00f3n de medicamentos inmunosupresores, siendo el trasplante de m\u00e9dula \u00f3sea la \u00fanica cura potencial.Objetivo: Describir una nueva mutaci\u00f3n del gen FOXP3, as\u00ed como los hallazgos y evoluci\u00f3n de un paciente con s\u00edndrome IPEX.Caso Cl\u00ednico: Lactante menor masculino que debut\u00f3 al mes de vida con diarrea cr\u00f3nica, falla intestinal e infecciones recurrentes. Ex\u00e1menes de laboratorio y biopsia intestinal sugerentes de enteropat\u00eda autoinmune. Durante el seguimiento, el paciente present\u00f3 refractariedad al manejo inmunosupresor con esteroides, ciclosporina y tacrolimus, falleciendo a los 7 meses de edad por complicaciones vasculares. Antecedente familiar por l\u00ednea materna de m\u00faltiples muertes en hombres menores de 1 a\u00f1o. Ante la sospecha de s\u00edndrome IPEX se realiz\u00f3 exoma en tr\u00edo que report\u00f3 una mutaci\u00f3n probablemente patog\u00e9nica en el gen FOXP3.Conclusi\u00f3n: Se document\u00f3 una nueva mutaci\u00f3n del gen FOXP3 en paciente con s\u00edndrome IPEX. A pesar de la baja prevalencia de esta enfermedad, es importante el reconocimiento de s\u00edntomas no espec\u00edficos pero sugerentes del diagn\u00f3stico.<\/jats:p>","DOI":"10.32641\/rchped.v91i4.1467","type":"journal-article","created":{"date-parts":[[2020,8,14]],"date-time":"2020-08-14T22:45:18Z","timestamp":1597445118000},"source":"Crossref","is-referenced-by-count":4,"title":["Nueva mutaci\u00f3n identificada en el gen FOXP3 en lactante menor con diarrea cr\u00f3nica como manifestaci\u00f3n de enteropat\u00eda autoinmune - S\u00edndrome IPEX"],"prefix":"10.32641","volume":"91","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1679-4645","authenticated-orcid":false,"given":"Clara","family":"Plata Garcia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena","family":"Martin-Marin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Soler-Ramirez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge A.","family":"Rojas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria P.","family":"Salazar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"17639","published-online":{"date-parts":[[2020,8,14]]},"container-title":["Revista Chilena de Pediatr\u00eda"],"original-title":[],"link":[{"URL":"http:\/\/revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/1467\/1973","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/1467\/1973","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T18:28:44Z","timestamp":1618252124000},"score":1,"resource":{"primary":{"URL":"http:\/\/revistachilenadepediatria.cl\/index.php\/rchped\/article\/view\/1467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,14]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,8,14]]}},"URL":"https:\/\/doi.org\/10.32641\/rchped.v91i4.1467","relation":{},"ISSN":["0370-4106","0370-4106"],"issn-type":[{"value":"0370-4106","type":"electronic"},{"value":"0370-4106","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8,14]]}}}