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Inicio Medicina Clínica (English Edition) Monogenic autoinflammatory diseases: General concepts and presentation in adult ...
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Vol. 150. Issue 2.
Pages 67-74 (January 2018)
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Vol. 150. Issue 2.
Pages 67-74 (January 2018)
Review
Monogenic autoinflammatory diseases: General concepts and presentation in adult patients
Enfermedades autoinflamatorias monogénicas: conceptos generales y presentación en pacientes adultos
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José Hernández-Rodrígueza,
Corresponding author
jhernan@clinic.ub.es

Corresponding author.
, Estíbaliz Ruiz-Ortizb, Jordi Yagüeb
a Unidad Clínica de Enfermedades Autoinflamatorias y Unidad de Investigación en Vasculitis, Servicio de Enfermedades Autoinmunes, Hospital Clínic de Barcelona, Universidad de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
b Servicio de Inmunología, Hospital Clínic de Barcelona, Universidad de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
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Tables (3)
Table 1. Characteristics of the main monogenic autoinflammatory diseases.
Table 2. Genetic characteristics and pathogenic pathways involved in other adult-onset monogenic autoinflammatory diseases.
Table 3. Clinical characteristics and treatment of other adult-onset monogenic autoinflammatory diseases.
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Abstract

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 paediatric 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.

Keywords:
Adult-onset
Monogenic autoinflammatory diseases
Undifferentiated autoinflammatory diseases
Resumen

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.

Palabras clave:
Enfermedades autoinflamatorias monogénicas
Enfermedades autoinflamatorias indiferenciadas
Inicio en edad adulta

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