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- W2489007998 abstract "Resumen El sindrome por delecion 22q11 (SD22q11) es el sindrome por delecion cromoso-mica mas frecuente en humanos y se caracteriza por la triada clinica que incluye cardiopatiacongenita, hipocalcemia e inmunodeficiencia primaria. El 85-90% de los pacientes tienen micro-deleciones en el cromosoma 22q11.2. Tomando como punto cardinal la cardiopatia congenita,se diseno˜ una estrategia para tamizacion y diagnostico de SD22q11 con enfasis en la evaluacioninmune. Es imprescindible realizar una historia clinica detallada y, posteriormente, un analisiscuantitativo y funcional delas subpoblaciones linfocitos en sangre periferica para clasificarloen SD22q11 completo (<1%) o parcial (95-99%) e instaurar las pautas de tratamiento aspectoscomo: aislamiento del paciente, vacunacion, profilaxis contra microorganismos oportunistas,uso de productos sanguineos irradiados y reconstitucion inmunologica. Sin embargo, el abordajedel paciente debe ser multidisciplinario para detectar y prevenir complicaciones a largo plazoque pueden ser graves, especialmente en los pacientes con SD22q11 completo.© 2015 Publicado por Elsevier Espana, S.L.U. en nombre de ACIN. Este es un articulo OpenAccess bajo la licencia CC BY-NC-ND (http://creativecommons.org/licenses/by-nc-nd/4.0/)." @default.
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- W2489007998 date "2016-01-01" @default.
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- W2489007998 title "Asociación Colombiana de Infectología" @default.
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