Tumor necrosis factor receptor associated periodic syndrome (TRAPS)

What is tumor necrosis factor receptor associated periodic syndrome (TRAPS) and what causes it?

• Autoinflammatory syndrome caused by autosomal dominant mutations in the TNFRSF1A gene on chromosome 12p13. Reduced penetrance and de novo mutations are also observed.

• Owing to the autosomal dominant transmission, a family history suggestive of TRAPS may be elicited, but de novo mutations have also been described.

• Proposed mechanisms include impaired TNF receptor shedding (therefore less soluble receptor to bind excess TNF, with subsequent prolongation of cellular signaling) and ligand-independent activation of innate immune functions (TNF receptor signaling in the absence of TNF binding); further research will likely expand our current understanding.


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