Gene TNFRSF1A mutation is linked to TRAPS, autosomal dominant Autoinflammatory Disease (AID) with recurrent attacks of fever (2-3 weeks long), abdominal pain, vomiting, serositis, arthralgia and/or arthritis, myalgia, fasciitis, rash. The disease starts precociously and amyloidosis is reported in the 25% of the patients. Patients carrying the mutation R92Q usually show a mild clinical phenotype, with an extreme interindividual variability. Arthralgia and serositis are frequently less severe, however oral ulcers and pharyngitis are recurrent. Objectives: We studied the clinical and biochemical impact of the mutation R92Q in our population and the treatment outcome in all the patients with clinical relevant symptoms.

Maria Cristina Maggio, C.F. (2017). Genetic and clinical profile of a sicilian population with R92Q mutation. PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL, 15(S2), 104-104.

Genetic and clinical profile of a sicilian population with R92Q mutation

Maria Cristina Maggio;Giuliana Vitaliti;Giovanni Corsello
2017-01-01

Abstract

Gene TNFRSF1A mutation is linked to TRAPS, autosomal dominant Autoinflammatory Disease (AID) with recurrent attacks of fever (2-3 weeks long), abdominal pain, vomiting, serositis, arthralgia and/or arthritis, myalgia, fasciitis, rash. The disease starts precociously and amyloidosis is reported in the 25% of the patients. Patients carrying the mutation R92Q usually show a mild clinical phenotype, with an extreme interindividual variability. Arthralgia and serositis are frequently less severe, however oral ulcers and pharyngitis are recurrent. Objectives: We studied the clinical and biochemical impact of the mutation R92Q in our population and the treatment outcome in all the patients with clinical relevant symptoms.
Settore MED/38 - Pediatria Generale E Specialistica
24th Paediatric Rheumatology European Society Congress
Atene
14-17 September 2017
Maria Cristina Maggio, C.F. (2017). Genetic and clinical profile of a sicilian population with R92Q mutation. PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL, 15(S2), 104-104.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/390111
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