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Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
Mult Scler 2010; 16(12):1517-20MS

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+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.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -