Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q
نویسندگان
چکیده
منابع مشابه
P02-001 – A novel TNFRSF1A mutation in periodic fever
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 ...
متن کاملE148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
BACKGROUND Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE To evaluate the ph...
متن کاملDescription of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation
Results The patient was referred to our clinic for evaluation of febrile episodes that started when he was 3 months old. Fever was present every day, and was associated with a rash that started in his feet and spread to his legs, with irritability, abdominal pain, diarrhea, arthralgia, and arthritis. During his first year of age, he was treated empirically for multiple infections, but continued...
متن کاملEXTENDED REPORT E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. Objective: To evaluate the ph...
متن کاملMEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease.
OBJECTIVES Given the pathological similarities between Behçet's disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn's disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent. METHODS Fifty-four BD patients (11 Jews and 43 Arabs), evaluat...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2004
ISSN: 1460-2172
DOI: 10.1093/rheumatology/keh066