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Article

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

Multiple sclerosis (Houndmills, Basingstoke, England) - 1 Dec 2010

Blaschek A, Lohse P, Huss K, Borggraefe I, Mueller-Felber W, Heinen F, Hohlfeld R, Kümpfel T

Abstract excerpt

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...

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PMID: 20876156
DOI: 10.1177/1352458510382933

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20876156-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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