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.
