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C.","issue":"2","license":[{"start":{"date-parts":[[2021,8,22]],"date-time":"2021-08-22T00:00:00Z","timestamp":1629590400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["RAM"],"abstract":"<jats:p>Introducci\u00f3n: La candidiasis mucocut\u00e1nea cr\u00f3nica asociada a autoinmunidad y displasia ectod\u00e9rmica es un error innato de la inmunidad, caracterizado por una triada cl\u00e1sica (candidiasis mucocut\u00e1nea cr\u00f3nica, hipoparatiroidismo e insuficiencia suprarrenal) debido a la presencia de autoanticuerpos contra diferentes \u00f3rganos endocrinos y no endocrinos; predomina en jud\u00edos y finlandeses.\nReporte de caso: Mujer de 7 a\u00f1os de edad de ascendencia europea y consanguinidad positiva, con historia personal de infecciones respiratorias de repetici\u00f3n, candidiasis cr\u00f3nica, colitis pseudomembranosa y pancitopenia. Los hallazgos cl\u00ednicos hicieron sospechar de un error innato de la inmunidad y el diagn\u00f3stico preciso de APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) se realiz\u00f3 al detectar una variante patog\u00e9nica en el gen AIRE, a trav\u00e9s de tecnolog\u00edas de secuenciaci\u00f3n de nueva generaci\u00f3n.\nConclusi\u00f3n: Hoy en d\u00eda, se tiene acceso a nuevas herramientas gen\u00e9ticas para establecer el diagn\u00f3stico temprano de los diferentes errores innatos de la inmunidad, as\u00ed se puede ofrecer un tratamiento oportuno y un mejor pron\u00f3stico. <\/jats:p>","DOI":"10.29262\/ram.v658i2.862","type":"journal-article","created":{"date-parts":[[2021,9,17]],"date-time":"2021-09-17T02:05:17Z","timestamp":1631844317000},"page":"144-149","source":"Crossref","is-referenced-by-count":3,"title":["Candidiasis mucocut\u00e1nea cr\u00f3nica asociada con autoinmunidad y displasia ectod\u00e9rmica. 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