Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis

Blaschek, Astrid; Lohse, P.; Huss, K.; Borggraefe, I.; Mueller-Felber, W.; Heinen, F.; Hohlfeld, R. und Kümpfel, T. (2010): Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. In: Multiple Sclerosis, Bd. 16, Nr. 12: S. 1517-1520

Abstract

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.

• Dokumententyp: Zeitschriftenartikel
• Publikationsform: Publisher's Version
• Keywords: childhood, demyelinating autoimmune diseases, Familial Mediterranean Fever, genetics, multiple sclerosis, receptors, tumor necrosis factor, type 1
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• Allianz-/Nationallizenz: Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
• Sprache: Englisch