Genetic and clinical profile of a sicilian population with R92Q mutation

Maria Cristina Maggio, Giovanni Corsello, Giuliana Vitaliti

Risultato della ricerca: Meeting Abstract

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.
Lingua originaleEnglish
pagine (da-a)104-104
Numero di pagine1
RivistaPEDIATRIC RHEUMATOLOGY ONLINE JOURNAL
Volume15
Stato di pubblicazionePublished - 2017

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Serositis
Arthralgia
Mutation
Oral Ulcer
Population
Fasciitis
Pharyngitis
Myalgia
Amyloidosis
Exanthema
Abdominal Pain
Arthritis
Vomiting
Fever
Phenotype
Genes

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Genetic and clinical profile of a sicilian population with R92Q mutation. / Maggio, Maria Cristina; Corsello, Giovanni; Vitaliti, Giuliana.

In: PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL, Vol. 15, 2017, pag. 104-104.

Risultato della ricerca: Meeting Abstract

Maggio, MC, Corsello, G & Vitaliti, G 2017, 'Genetic and clinical profile of a sicilian population with R92Q mutation', PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL, vol. 15, pagg. 104-104.
Maggio MC, Corsello G, Vitaliti G. Genetic and clinical profile of a sicilian population with R92Q mutation. PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL. 2017;15:104-104.
Maggio, Maria Cristina ; Corsello, Giovanni ; Vitaliti, Giuliana. / Genetic and clinical profile of a sicilian population with R92Q mutation. In: PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL. 2017 ; Vol. 15. pagg. 104-104.
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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.",
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AU - Maggio, Maria Cristina

AU - Corsello, Giovanni

AU - Vitaliti, Giuliana

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N2 - 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.

AB - 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.

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SN - 1546-0096

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