Review
Hereditary systemic autoinflammatory diseasesEnfermedades autoinflamatorias sistémicas hereditarias

https://doi.org/10.1016/S2173-5743(11)70007-7Get rights and content

Abstract

Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in genes encoding for different proteins involved in the innate immune response and inflammation. Herein, we will introduce the reader to an updated review of the main clinical, physiopathological and therapeutic features of the different hereditary systemic autoinflammatory diseases.

Resumen

Las enfermedades autoinflamatorias sistémicas engloban un conjunto de enfermedades poco frecuentes caracterizadas todas ellas por la presencia de episodios inflamatorios agudos y recurrentes, que son consecuencia de una disregulación del control del proceso inflamatorio. Desde sus respectivas descripciones clínicas, se había observado un claro patrón hereditario mendeliano para algunas de ellas. En fechas recientes se han identificado los defectos genéticos y moleculares subyacentes al identificarse mutaciones responsables de enfermedad en diferentes genes relacionados con la respuesta inmune innata y con la inflamación. A lo largo de la presente revisión se abordarán de una manera actualizada los principales aspectos clínicos, fisiopatológicos y terapéuticos de las diferentes enfermedades autoinflamatorias hereditarias.

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