title: Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
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.
authors.affiliation: Department of Pediatric Neurology and Developmental Medicine, Dr von Haunersches Children's Hospital, Ludwig-Maximilians University, Munich, Germany. astrid.blaschek@med.uni-muenchen.de
authors.forename: A
authors.initials: A
authors.lastname: Blaschek
authors.forename: P
authors.initials: P
authors.lastname: Lohse
authors.forename: K
authors.initials: K
authors.lastname: Huss
authors.forename: I
authors.initials: I
authors.lastname: Borggraefe
authors.forename: W
authors.initials: W
authors.lastname: Mueller-Felber
authors.forename: F
authors.initials: F
authors.lastname: Heinen
authors.forename: R
authors.initials: R
authors.lastname: Hohlfeld
authors.forename: T
authors.initials: T
authors.lastname: Kümpfel
mesh_terms: D000293:Adolescent; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human