{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T22:41:41Z","timestamp":1794436901235,"version":"4.9.1"},"reference-count":34,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 2","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>Introducci\u00f3n. La enfermedad granulomatosa cr\u00f3nica es un error innato de la inmunidad caracterizado por aumento de la susceptibilidad a desarrollar infecciones por hongos y bacterias, e inflamaci\u00f3n no regulada. Se produce por defectos en la coenzima NADPH oxidasa y la prote\u00edna EROS.Objetivo. Caracterizar cl\u00ednica y gen\u00e9ticamente cuatro pacientes con enfermedad granulomatosa cr\u00f3nica del Hospital Infantil de M\u00e9xico Federico G\u00f3mez.Material y m\u00e9todos. Los pacientes con diagn\u00f3stico de enfermedad granulomatosa cr\u00f3nica diagnosticados por la t\u00e9cnica de oxidaci\u00f3n de dihidrorrodamina, fueron caracterizados molecular y gen\u00e9ticamente mediante la medici\u00f3n de la expresi\u00f3n de las subunidades de la NADPH oxidasa, y por secuenciaci\u00f3n y an\u00e1lisis de exoma. Se obtuvieron diferentes variables de la historia cl\u00ednica y se describi\u00f3 cada una de ellas.Resultados. Se describieron cuatro pacientes de sexo masculino con enfermedad granulomatosa cr\u00f3nica. En tres se encontr\u00f3 mutaci\u00f3n del gen CYBB: dos tuvieron variantes pat\u00f3genas sin sentido y el otro tuvo deleci\u00f3n de este gen y genes contiguos; el cuarto paciente mostr\u00f3 ausencia de expresi\u00f3n de la subunidad p47phox. Las madres de los tres pacientes con mutaci\u00f3n en CYBB, resultaron portadoras. Los tres casos con alteraciones en CYBB presentaron infecciones graves y recurrentes, adem\u00e1s de infecci\u00f3n por el bacilo de Calmette-Gu\u00e9rin como manifestaci\u00f3n inicial. El paciente con ausencia de p47phox present\u00f3 el cuadro cl\u00ednico menos grave. Por el contrario, la deleci\u00f3n de CYBB y otros genes contiguos se asoci\u00f3 con un mal pron\u00f3stico. Ninguno de los pacientes recibi\u00f3 trasplante de c\u00e9lulas progenitoras hematopoy\u00e9ticas.Conclusiones. En este grupo de pacientes, la enfermedad granulomatosa cr\u00f3nica causada por variantes pat\u00f3genas en CYBB fue la m\u00e1s frecuente. A las madres portadoras se les debe hacer seguimiento cl\u00ednico por el riesgo de manifestaciones inflamatorias, autoinmunitarias e infecciosas. Una de las primeras manifestaciones en los afectados fue la infecci\u00f3n por el bacilo de Calmette-Gu\u00e9rin y, en pa\u00edses como M\u00e9xico, en donde se aplica esta vacuna, los casos con reacciones adversas deben ser tamizados para descartar enfermedad granulomatosa cr\u00f3nica.<\/jats:p>","DOI":"10.7705\/biomedica.7565","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T15:50:52Z","timestamp":1736437852000},"page":"107-117","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":1,"title":["Descripci\u00f3n cl\u00ednica y gen\u00e9tica de pacientes con enfermedad granulomatosa cr\u00f3nica en un hospital pedi\u00e1trico","Clinical and genetic description of patients with chronic granulomatous disease in a pediatric 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