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.
Maggio, M., Fabiano, C., Vitaliti, G., & Corsello, G. (2017). Genetic and clinical profile of a sicilian population with R92Q mutation. PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL, 15(S2), 104-104.
Data di pubblicazione: | 2017 | |
Titolo: | Genetic and clinical profile of a sicilian population with R92Q mutation | |
Autori: | ||
Citazione: | Maggio, M., Fabiano, C., Vitaliti, G., & Corsello, G. (2017). Genetic and clinical profile of a sicilian population with R92Q mutation. PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL, 15(S2), 104-104. | |
Rivista: | ||
Nome del convegno: | 24th Paediatric Rheumatology European Society Congress | |
Anno del convegno: | 14-17 September 2017 | |
Luogo del convegno: | Atene | |
Settore Scientifico Disciplinare: | Settore MED/38 - Pediatria Generale E Specialistica | |
Appare nelle tipologie: | 1.05 Abstract in atti di convegno pubblicato in rivista |
File in questo prodotto:
File | Descrizione | Tipologia | Licenza | |
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PRES2017_MaggioMC_et_al_P189.pdf | PRES2017_R92Q | Versione Editoriale | Open Access Visualizza/Apri |