Die Mevalonat-Kinase assoziierte entzündliche Erkrankungen umfasst eine Gruppe von Erkrankungen, bei welchen Mutationen der Mevalonat-Kinase zu rezidivierenden Entzündungsreaktionen führen. Je nach zugrundeliegender Mutation können diese sich nur lokal auf die Haut beschränken oder schwere systemische Komplikationen nach sich ziehen.
Entsprechend der allelischen Varianten können drei verschiedene Phänotypen unterschieden werden:
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OMIM.ORG article Omim 251170 |