Hemos descrito dos pacientes holandeses con ataques de fiebre recurrentes no diagnosticados durante más de 40 años. El diagnóstico de fiebre periódica fue realizado cuando un análisis molecular reveló novedosas mutaciones en el gen receptor (TNFRSF1A) del factor de necrosis tumoral (TNF), estableciendo el diagnóstico de un síndrome periódico asociado al receptor
TNF.
Este síndrome es un trastorno autosómico dominante, caracterizado por episodios recurrentes de fiebre, artralgia y lesiones cutáneas que son provocadas por las mutaciones en el gen 55-kd TNFRSF1A. Este hallazgo ha facilitado el tratamiento del síndrome periódico asociado al receptor TNF, debido a que el bloqueo de la señalización del TNF parece aliviar los síntomas.
El uso de un curso corto de la proteína de fusión recombinante p75TNFR:Fc (etanercept) provocó una remisión prolongada en un paciente.
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