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Article

A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS).

European journal of immunology - 1 Jul 2014

Negm Ola H, Mannsperger Heiko A, McDermott Elizabeth M, Drewe Elizabeth, Powell Richard J, Todd Ian, Fairclough Lucy C, Tighe Patrick J

Abstract excerpt

Mutations in TNFRSF1A encoding TNF receptor 1 (TNFR1) cause the autosomal dominant TNF receptor-associated periodic syndrome (TRAPS): a systemic autoinflammatory disorder. Misfolding, intracellular aggregation, and ligand-independent signaling by mutant TNFR1 are central to disease pathophysiology. Our aim was to understand the extent of signaling pathway perturbation in TRAPS. A prototypic mutant TNFR1 (C33Y),...

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Identifiers

PMID: 24668260
DOI: 10.1002/eji.201344328
PMCID: PMC4285816

Genes

TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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