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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.

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  • Authors+Show Affiliations

    ,

    Department of Pediatric Neurology and Developmental Medicine, Dr von Haunersches Children's Hospital, Ludwig-Maximilians University, Munich, Germany. astrid.blaschek@med.uni-muenchen.de

    , , , , , ,

    Source

    MeSH

    Adolescent
    Cytoskeletal Proteins
    Female
    Humans
    Male
    Multiple Sclerosis
    Mutation
    Pedigree
    Pyrin
    Receptors, Tumor Necrosis Factor, Type I

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    20876156

    Citation

    Blaschek, A, et al. "Concurrent TNFRSF1A R92Q and Pyrin E230K Mutations in a Child With Multiple Sclerosis." Multiple Sclerosis (Houndmills, Basingstoke, England), vol. 16, no. 12, 2010, pp. 1517-20.
    Blaschek A, Lohse P, Huss K, et al. Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. Mult Scler. 2010;16(12):1517-20.
    Blaschek, A., Lohse, P., Huss, K., Borggraefe, I., Mueller-Felber, W., Heinen, F., ... Kümpfel, T. (2010). Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. Multiple Sclerosis (Houndmills, Basingstoke, England), 16(12), pp. 1517-20. doi:10.1177/1352458510382933.
    Blaschek A, et al. Concurrent TNFRSF1A R92Q and Pyrin E230K Mutations in a Child With Multiple Sclerosis. Mult Scler. 2010;16(12):1517-20. PubMed PMID: 20876156.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis. AU - Blaschek,A, AU - Lohse,P, AU - Huss,K, AU - Borggraefe,I, AU - Mueller-Felber,W, AU - Heinen,F, AU - Hohlfeld,R, AU - Kümpfel,T, Y1 - 2010/09/27/ PY - 2010/9/30/entrez PY - 2010/9/30/pubmed PY - 2011/3/22/medline SP - 1517 EP - 20 JF - Multiple sclerosis (Houndmills, Basingstoke, England) JO - Mult. Scler. VL - 16 IS - 12 N2 - 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. SN - 1477-0970 UR - https://www.unboundmedicine.com/medline/citation/20876156/Concurrent_TNFRSF1A_R92Q_and_pyrin_E230K_mutations_in_a_child_with_multiple_sclerosis_ L2 - http://journals.sagepub.com/doi/full/10.1177/1352458510382933?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -