{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:09:06Z","timestamp":1790863746385,"version":"4.1.0"},"reference-count":0,"publisher":"Sociedad Argentina de Gastroenterologia","issue":"3","license":[{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ACTA"],"abstract":"<jats:p>La enfermedad inflamatoria intestinal pedi\u00e1trica asociada a errores innatos de la inmunidad representa un desaf\u00edo diagn\u00f3stico y terap\u00e9utico, en especial en los casos de inicio temprano, enfermedad grave, manifestaciones extraintestinales o refractariedad al tratamiento. Presentamos tres casos pedi\u00e1tricos con un curso cl\u00ednico agresivo, compromiso multisist\u00e9mico y respuesta insuficiente a m\u00faltiples l\u00edneas terap\u00e9uticas, en quienes la presencia persistente de se\u00f1ales de alarma motiv\u00f3 la realizaci\u00f3n de estudios gen\u00e9ticos. En uno de ellos, la secuenciaci\u00f3n del exoma identific\u00f3 una variante patog\u00e9nica en FOXP3, confirmando el diagn\u00f3stico de s\u00edndrome IPEX. En los otros dos pacientes, hermanos entre s\u00ed, se identific\u00f3 una alteraci\u00f3n en XIAP compatible con diagn\u00f3stico de s\u00edndrome linfoproliferativo ligado al X tipo 2. En el paciente \u00edndice con deficiencia de XIAP, el exoma inicial no identific\u00f3 variantes causales. Posteriormente, la secuenciaci\u00f3n del genoma permiti\u00f3 establecer el diagn\u00f3stico molecular, lo que condujo al diagn\u00f3stico familiar en cascada de su hermano. Estos casos resaltan la importancia de reconocer tempranamente los fenotipos sugestivos de enfermedad monog\u00e9nica, mantener la sospecha diagn\u00f3stica ante estudios gen\u00e9ticos iniciales negativos y realizar una evaluaci\u00f3n multidisciplinaria oportuna. La identificaci\u00f3n de un error innato de la inmunidad subyacente puede modificar sustancialmente el abordaje terap\u00e9utico, permitir la consideraci\u00f3n de opciones potencialmente curativas como el trasplante de progenitores hematopoy\u00e9ticos y facilitar el asesoramiento gen\u00e9tico familiar.<\/jats:p>","DOI":"10.52787\/agl.v56i3.597","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:50:20Z","timestamp":1790862620000},"page":"357-364","source":"Crossref","is-referenced-by-count":0,"title":["La gran simuladora: tres casos de enfermedad inflamatoria intestinal asociada a errores innatos de la inmunidad"],"prefix":"10.52787","volume":"56","author":[{"given":"Diana Paola","family":"S\u00e1nchez Hern\u00e1ndez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8548-9957","authenticated-orcid":false,"given":"Sara","family":"Vallejo Tamayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"30608","published-online":{"date-parts":[[2026,9,30]]},"container-title":["Acta Gastroenterol\u00f3gica Latinoamericana"],"original-title":[],"link":[{"URL":"https:\/\/actaojs.org.ar\/ojs\/index.php\/acta\/article\/download\/597\/1009","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/actaojs.org.ar\/ojs\/index.php\/acta\/article\/download\/597\/1030","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/actaojs.org.ar\/ojs\/index.php\/acta\/article\/download\/597\/1030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:50:21Z","timestamp":1790862621000},"score":1,"resource":{"primary":{"URL":"https:\/\/actaojs.org.ar\/ojs\/index.php\/acta\/article\/view\/597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,30]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,9,30]]}},"URL":"https:\/\/doi.org\/10.52787\/agl.v56i3.597","relation":{},"ISSN":["2469-1119"],"issn-type":[{"value":"2469-1119","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,30]]}}}