منابع مشابه
Concise report PFAPA syndrome is not a sporadic disease
Objectives. To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. Method. For all patients with PFAPA seen in two paediatric rheumatology centres (Romandy, Switzerland and Bordeaux, France), parents were interviewed to record the FH for periodic fever. As controls, we interv...
متن کاملPFAPA syndrome: is it a family history?
Patients and methods In 2 of the participating centers (Lausanne-Geneva, Switzerland; Bordeaux, France), we questioned all parents during a phone call interview to complete the family history. We used the same questionnaire for a control group from a general pediatric consultation. We asked for positive family history of recurrent fevers, PFAPA and rheumatologic diseases. Patients and controls ...
متن کاملWhen sporadic disease is not sporadic: the potential for genetic etiology.
BACKGROUND Approximately 2% of Alzheimer disease cases and 10% to 15% of prion disease cases are due to mutations in autosomal dominant genes. Mutations have been found in patients without family histories of neurological disease. OBJECTIVES To emphasize the need for consideration of a genetic etiology of prion disease and early-onset Alzheimer disease, regardless of the absence of a signific...
متن کاملPFAPA syndrome is linked to dysregulated IL-1β production
Background Auto-inflammatory diseases (AID) are characterized by recurrent or chronic febrile episodes due to a defect in the regulation of the inflammatory response linked to the innate immunity. For some AID, a monogenic origin has been established recently. The genetic defect is related or is suspected to be related to a molecular complex called inflammasome, which is involved in the regulat...
متن کاملPFAPA syndrome: with regard to a case.
BACKGROUND PFAPA syndrome (Periodic Fever, Aphtas, Pharyngitis and cervical Adenopathies) is one of the causes of periodic fever in pediatrics and it is characterised by high fever, pharyngitis, cervical adenitis and aphtous stomatitis. Its etiopathogeny is unknown. The diagnosis is clinical and the findings of laboratory are unspecified. One or two doses (1 mg/kg) of oral prednisone are enough...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2010
ISSN: 1462-0324,1462-0332
DOI: 10.1093/rheumatology/keq187