A case with mutation in the TNFRSF1A gene

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominant hereditary diseaseof the group of recurrent autoinflammatory syndromes. Theprognosis is generally good; the main risk is the developmentof amyloidosis. Corticosteroid therapy is usually administeredduring attacks. Severe cases require treatment with biologicalagents. In this study, DNA fragment analysis and next generation sequencing methods were applied to elucidate the patientwith recurrent fever and joint pain. A six-year-old girl with recurrent fever and joint pain was referred to a medical geneticsclinic for a etiologic study on the consideration of autoinflammatory disease. On physical examination, there was no featureexcept bilateral swelling in the knee. Echocardiography andknee magnetic resonance examination were unremarkable. Thesuperficial tissue ultrasonographic examination of the bilateralknee region was observed fluid accumulation 30 mm on the leftand 15mm on the right in the thickest site, at the suprapatellarlevel. Fluid was observed in the joint range. In the sample fromthe joint fluid, the white blood cell was 74000/m³. In the analysisof the peripheral blood, white blood cell count was 17.7x10³/µL,CRP: 31 mg/L, fibrinogen: 4.6g/L, sedimentation: 25 mm/h. The24-hour urine protein/creatinine was 0.27 mg/mg. FMF fragment analysis revealed no mutation and the diagnosis of FMFwas excluded. The next generation sequence analysis revealed alikely pathogenic, heterozygous c.362G>A(R121Q; rs4149584) alteration of the TNFRSF1A gene (ENST00000162749). Then thesegregation analysis was planned. In this study, we pointed outthe TNFRSF1A mutation in periodic fever syndrome cases. Earlydiagnosis by genetic testing can prevent amyloidosis.