Errores innatos de la inmunidad humana: veinticinco años de cambios de paradigma en clasificación, fenotipificación clínica y diagnóstico molecular
DOI:
https://doi.org/10.5281/zenodo.22271455Palabras clave:
errores innatos de la inmunidad; inmunodeficiencias primarias; enfermedades del sistema inmune; trastornos de la inmunidad; enfermedades genéticas innatas; autoinmunidadResumen
Introducción: los errores innatos de la inmunidad (IEI) son trastornos predominantemente monogénicos que cursan con un espectro clínico que incluye infecciones, autoinmunidad, autoinflamación, alergia y neoplasias. En 25 años, la IUIS ha publicado 14 informes de clasificación que han guiado el campo.
Objetivo: sintetizar la evolución conceptual y cuantitativa de los IEI documentada en los informes de la IUIS desde 1999 hasta 2024.
Método: revisión de alcance (Arksey & O'Malley) con búsqueda sistemática en PubMed de los informes oficiales (1999-2024). Se extrajeron el número de trastornos, defectos genéticos, clasificación y fenotipos clínicos, categorizados en infecciosos, autoinmunes, autoinflamatorios, alérgicos, malignos o no inmunológicos.
Resultados: los IEI reconocidos aumentaron en ocho veces, pasando de 59 en 1999 a 559 en 2024, derivados de 508 genes y 17 fenocopias somáticas. Se identificaron tres fases de crecimiento: lineal (1999-2005), acelerada (2005-2015) y exponencial con consolidación estructural (2015-2024). Los principales cambios de paradigma incluyeron tablas específicas de desregulación y autoinflamación (2005), el cambio de nomenclatura a "errores innatos de la inmunidad" (2017) y la introducción de fenocopias (2014). En 2024, el 43 % de los nuevos IEI son de autoinflamación o desregulación. Las manifestaciones no inmunológicas afectan al 100 % de los IEI sindrómicos y a síndromes de insuficiencia medular.
Conclusiones: la evolución de la clasificación refleja una reconceptualización fundamental, de deficiencias infecciosas a trastornos multisistémicos por desregulación. Este marco respalda el diagnóstico por vías moleculares y la terapia de precisión, con implicaciones en reumatología, hematología, alergología y neurología.
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Derechos de autor 2026 Carlos Alfredo Miló Valdés, Adrián Alejandro Vitón-Castillo, Lidia Cecilia Pérez Acevedo, Marla González Martínez
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
