PFAPA syndrome as an hereditary autoinflamatory disorder

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PFAPA syndrome as an hereditary autoinflamatory disorder

Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the ...

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PW03-009 – Genetics of PFAPA syndrome

Introduction Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of childhood and little is known about the underlying etiology. While mutations involving the IL-1 pathway have been identified in other recurrent fever disorders, including TNF-receptor associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS)...

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PFAPA 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 ...

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PFAPA 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: Pediatric Rheumatology

سال: 2015

ISSN: 1546-0096

DOI: 10.1186/1546-0096-13-s1-p198