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June 24, 2024DiagnosticsOpen Access

The Multifaceted Complexity of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): A Case Report Highlighting Atypical Gastrointestinal Manifestations

Massimiliano Mancini Giovanni Di Nardo Emanuele Casciani Maria Feudi Lavinia Bargiacchi Angelica Petraroli Francesca Della Casa Arianna Di Napoli Andrea Vecchione

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Abstract

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder stemming from mutations in the TNFRSF1A gene affecting the tumor necrosis factor receptor (TNFR)-1. These mutations lead to dysregulated inflammatory responses, primarily mediated by augmented interleukin (IL)-1β release.

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Mancini et al. (2024) studied this question.

synapsesocial.com/papers/68e63913b6db6435875cae4e https://doi.org/10.3390/diagnostics14131337

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A Novel TNFRSF1A Gene Variant in a Patient with Recurrent Fevers and Amyloidosis: A Case ReportCase Report · 2026
2A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome2024
3Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1AOriginal Research · 2005 · 88 citations
4Renal AA amyloidosis associated with a TRAPS-like autoinflammatory phenotype and TNFRSF1A R92Q variant in adulthoodOriginal Research · 2026
5TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPSOriginal Research · 2021 · 4 citations

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Idiopathic Recurrent Pericarditis Refractory to Colchicine Treatment Can Reveal Tumor Necrosis Factor Receptor-Associated Periodic Syndrome2009
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A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in <i>NLRP3</i> and <i>TNFRSF1A</i> genes2024

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