P02-001 – A novel TNFRSF1A mutation in periodic fever
نویسندگان
چکیده
Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disease characterized by periodic fever, accompanying with attacks of abdominal pain, arthralgia, myalgia, erythematous rashes, periorbital edema and conjunctivitis. Mutations in the extracellular domain of the 55-kD tumor necrosis factor receptor (TNFRSF1A) has been shown to be responsible for the TRAPS syndrome.
منابع مشابه
P02-010 - A novel 24 nucleotide deletion in the TNFRSF1A
Introduction TNF receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant disease characterized by episodes of fever usually lasting two to three weeks, associated with severe abdominal pain, arthralgia, skin rash and red and swollen eyes. The age of onset varies from early childhood to adulthood, and the disease affects both sexes equally. Although first cases were described ...
متن کاملP02-014 - Consequences of Arginine 92 mutations in TNFR1
Introduction TNFRSF1A is involved in a Mendelian autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is especially true for the frequent R92Q mutation, which might not be responsible for TRAPS per s...
متن کاملP02-011 - TRAPS syndrome debuted as systemic JIA
Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. The great diversity o...
متن کاملP02-024 - Clinical impact of V198M mutation in NLRP3 gene
Results The V198M mutation was found in 13 screened patients: 10 were heterozygous for the mutation only. In one patient with a typical MWS phenotype the V198M variant was associated with the Q703K and the D303N mutation of the same gene. In a patient a low-penetrance mutation of TNFRSF1A gene (P46L) was also found, while another one carried the A91V mutation of Pfr1 gene. Out of the 10 patient...
متن کاملClinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.
OBJECTIVES To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site. METHODS Patients with symptoms suggestive of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and 22 healthy controls (HC) were screened for mutations in th...
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