Señales de alerta para sospechar de errores innatos de la inmunidad en pacientes con enfermedades autoimmunitarias
Resumen
Los errores innatos de la inmunidad son trastornos monogénicos que predisponen a los pacientes a la desregulación inmunitaria, la autoinmunidad y las infecciones. Algunas enfermedades autoinmunitarias, como las citopenias autoinmunitarias, el lupus eritematoso sistémico y las enfermedades inflamatorias intestinales son cada vez más reconocidas como errores innatos de la inmunidad.
El objetivo de este artículo fue investigar las señales de alerta clínicas o de laboratorio que pueden hacer sospechar errores innatos de la inmunidad en pacientes con citopenias autoinmunitarias, lupus eritematoso sistémico y enfermedades inflamatorias intestinales, mediante una revisión sistemática de la literatura.
El estudio se realizó bajo los parámetros para revisiones sistemáticas y metaanálisis (PRISMA). Después de la selección, se incluyeron 36 artículos cuya calidad metodológica se verificó por medio de las herramientas para el análisis individual del riesgo de sesgo del Joanna Briggs Institute.
Las principales señales de alerta en las citopenias autoinmunitarias son presentación crónica, recurrente y resistente al tratamiento, infecciones recurrentes, complicaciones infecciosas graves asociadas con el tratamiento inmunosupresor y linfoproliferación crónica. En el lupus, las señales de alerta incluyen una edad de inicio antes de los 5 años, compromiso grave de órgano blanco, perniosis y linfoproliferación crónica. Finalmente, las señales de alerta en la enfermedad inflamatoria intestinal son la edad de inicio antes de los 2 años, la resistencia a los tratamientos convencionales, los hallazgos atípicos en la endoscopia o la histología, y la consanguinidad en los padres. Las enfermedades autoinmunitarias pueden ser la primera manifestación de los errores innatos de la inmunidad.
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