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Updated: Jul 6, 2026

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
Published on: August 23, 2024
[Tumor necrosis factor receptor-associated periodic syndrome]
D Velasco Sánchez1, J Antón López, J B Ros Viladoms
1Servicio de Pediatría, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Abstract:
Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abdominal symptoms may also be present. We describe the case of a 4-year-old boy with recurrent inflammatory episodes, fever and cutaneous symptoms who was diagnosed with TRAPS. We review the clinical and laboratory findings, genetic diagnosis, and treatment approach in this disease.
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