
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.
Item Type: | Journal article |
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Form of publication: | Publisher's Version |
Keywords: | childhood, demyelinating autoimmune diseases, Familial Mediterranean Fever, genetics, multiple sclerosis, receptors, tumor necrosis factor, type 1 |
Faculties: | Medicine |
Subjects: | 600 Technology > 610 Medicine and health |
URN: | urn:nbn:de:bvb:19-epub-15555-2 |
Alliance/National Licence: | This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. |
Language: | English |
Item ID: | 15555 |
Date Deposited: | 13. Jun 2013, 11:43 |
Last Modified: | 04. Nov 2020, 12:56 |