Genetic and clinical profile of a sicilian population with R92Q mutation

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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title = "Genetic and clinical profile of a sicilian population with R92Q mutation",
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.",
author = "Maggio, {Maria Cristina} and Giovanni Corsello and Giuliana Vitaliti",
year = "2017",
language = "English",
volume = "15",
pages = "104--104",
journal = "Pediatric Rheumatology",
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TY - JOUR

T1 - Genetic and clinical profile of a sicilian population with R92Q mutation

AU - Maggio, Maria Cristina

AU - Corsello, Giovanni

AU - Vitaliti, Giuliana

PY - 2017

Y1 - 2017

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.

UR - http://hdl.handle.net/10447/390111

M3 - Meeting Abstract

VL - 15

SP - 104

EP - 104

JO - Pediatric Rheumatology

JF - Pediatric Rheumatology

SN - 1546-0096

ER -