C. Pagnoux

A Novel TNFRSF1A Gene Variant in a Patient with Recurrent Fevers and Amyloidosis: A Case Report

TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder. It is caused by pathogenic variants in the TNFRSF1A gene which encodes the TNF receptor 1. These mutations impair receptor shedding and disrupt TNFα signaling, leading to uncontrolled inflammation with recurren...