Resumen
Las inmunodeficiencias humorales (IDH) comprenden un grupo de enfermedades caracterizadas por la imposibilidad de desarrollar una respuesta inmune efectiva mediada por inmunoglobulinas. Los pacientes con IDH presentan infecciones por bacterias extracelulares encapsuladas, principalmente en el tracto respiratorio o gastrointestinal y una mayor predisposición a padecer enfermedades autoinmunes y cáncer. Algunas se originan por defectos genéticos bien definidos y en otras se desconoce la causa. Las manifestaciones clínicas de algunas IDH pueden ser tardías y el diagnóstico se apoya en pruebas de laboratorio como la concentración en suero de las inmunoglobulinas, determinación de poblaciones linfocitarias y estudios funcionales. El tratamiento de reemplazo con gammaglobulinas disminuye significativamente las infecciones graves. Para lograr un diagnóstico temprano es necesario un alto índice de sospecha y evaluar las manifestaciones clínicas y de laboratorio sugestivas de IDH. Las tecnologías de secuenciación masiva han favorecido la descripción de mutaciones en varios genes que llevan a un fenotipo clínico de IDH, con lo que se abre el camino para comprender mejor las inmunopatologías en las IDH.
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