PW03-009 – Genetics of PFAPA syndrome
نویسندگان
چکیده
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), PFAPA syndrome is not traditionally considered to be a hereditary fever disorder.
منابع مشابه
PW03-004 - PFAPA patient’s serum sensitizes monocytes to LPS
Methods Serum of three controls (CTRL) or PFAPA patients collected during (PFAPA-IN) and between (PFAPA-OUT) flares were incubated with monocytes isolated from healthy volunteers (n=3) and stimulated with ultra pure lipopolysaccharide (LPSup). IL-1b, TNF-a and IL-6 levels were measured by ELISA comparing serum stimulation alone and the impact of serum pre-incubation on LPSup induced cytokines.
متن کاملPW03-002 – Calculating Gaslini diagnostic score in PFAPA
Introduction PFAPA syndrome is the most common cause of periodic fevers in children. In the clinical setting of children with periodic fever, there are a minority of patients in which to differentiate between PFAPA and monogenic periodic fevers is not immediate. The Gaslini score would provide a useful tool in this setting, calculating the probability to carry a mutation for monogenic periodic ...
متن کاملPW03-003 – Altered neutrophil function in PFAPA
Introduction The PFAPA syndrome is a non-mendelian autoinflammatory disease of unknown aetiology characterized by Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis. In typical cases, attacks begin before the age of five and occur every 2-8 weeks, often with striking periodicity. We have previously profiled the blood cells and serum cytokine levels in a cohort study of pati...
متن کاملPW03-005 - NLRP3-Q705K monocytes do not produce more IL-1B
Introduction PFAPA is a pediatric auto-inflammatory syndrome of unknown etiology, characterized by recurrent fever, aphthosis, pharyngitis and cervical adenitis. Dysregulated monocyte interleukin-1 beta (IL-1b) secretion is thought to play an important role in fever flares. Recently, it was published that Thp1 cells (a monocytic cell line) transduced with the Q705K variant of NLRP3 increased IL...
متن کاملConcise 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...
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