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Blaschek, Astrid; Lohse, P.; Huss, K.; Borggraefe, I.; Mueller-Felber, W.; Heinen, F.; Hohlfeld, R.; Kümpfel, T. (2010): Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. In: Multiple Sclerosis, Vol. 16, No. 12: pp. 1517-1520




We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease. Genetic analyses revealed that she inherited a TNFRSF1A R92Q mutation from her mother and a pyrin E230K mutation from her father. To our knowledge, this is the first report of a patient with severe childhood multiple sclerosis and mutations in two genes which predispose to hereditary autoinflammatory disorders. We speculate that these mutations contribute to early multiple sclerosis manifestation and enhance the inflammatory damage inflicted by the autoimmune response.