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Mutations in TNFRSF1A can result in the autosomal dominant TNF receptor-associated periodic syndrome  (TRAPS): a complex and heterogeneous systemic autoinflammatory disorder. Misfolding, intracellular aggregation and ligand-independent signalling by mutant TNFR1 play central roles in disease pathophysiology.

PW02-019 - Inflammatory pathways activation in TRAPS patients