Pedraza S, Aldana R, Herrera MT, Torres M, Bustamante J

Idioma: Español
Referencias bibliográficas: 39
Paginas: 88-99
Archivo PDF: 422.28 Kb.

RESUMEN

El síndrome de susceptibilidad mendeliana a las infecciones micobacterianas (MSMD, por sus siglas en inglés) es una inmunodeficiencia primaria atípica debida a defectos en la inmunidad mediada por IFN-γ, que predispone a las personas que la padecen principalmente a infecciones de bacterias intracelulares de los géneros Mycobacterium y Salmonella. En estos pacientes, las infecciones localizadas o diseminadas por BCG vacunal son comunes. Las mutaciones conocidas que causan MSMD abarcan a los genes que controlan la producción de IFN-γ (IL12B e IL12RB1) o la respuesta a esa citocina (IFNGR1, IFNGR2 y STAT1). En este artículo se discuten los aspectos biológicos y clínicos de estas inmunodeficiencias y se presentan puntos clave en la identificación de los pacientes que se estudian para diagnóstico de MSMD.

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