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• W2753996823 abstract "Las enfermedades autoinflamatorias (EAIF) monogénicas son enfermedades minoritarias caracterizadas por un aumento descontrolado de la respuesta inflamatoria sistémica, que es causado por mutaciones en genes que participan en ciertas vías inflamatorias. En los últimos años, se han identificado genes y proteínas responsables de nuevas EAIF, y se ha producido una mejora sustancial en su tratamiento. Las EAIF monogénicas se inician típicamente en la edad pediátrica, pero también se presentan en adultos. A diferencia de los pacientes pediátricos, los adultos suelen manifestar síntomas menos graves y con menos complicaciones a largo plazo. Además, en los pacientes que comienzan en la edad adulta tienden a predominar las variantes genéticas de baja penetrancia sobre las patogénicas. Ocasionalmente, el inicio tardío se puede asociar a la presencia de mutaciones somáticas. En esta revisión se describen las EAIF monogénicas que pueden iniciarse en la edad adulta, entre las que se encuentran las más conocidas y frecuentes hasta la fecha, y otras de reciente descripción. Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused by mutations in genes involved in inflammatory pathways. Over the last few years, new genes and proteins responsible for new monogenic AIFD have been identified and a substantial improvement in their treatment has been achieved. Monogenic AIFD manifestations typically begin during childhood, but they can also occur in adults. Compared to pediatric patients, adults usually present with a less severe disease and fewer long-term complications. In addition, patients with adult-onset disease carry low-penetrance mutations more often than pathogenic variants. A late-onset of AIFD may be occasionally associated with the presence of somatic mutations. In this study, we review the most frequent monogenic AIFD, and others recently described, which may occur during adulthood." @default.
• W2753996823 created "2017-09-25" @default.
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• W2753996823 date "2018-01-01" @default.
• W2753996823 modified "2023-10-17" @default.
• W2753996823 title "Enfermedades autoinflamatorias monogénicas: conceptos generales y presentación en pacientes adultos" @default.
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• W2753996823 doi "https://doi.org/10.1016/j.medcli.2017.07.012" @default.
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