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2015 ; 2015
(ä): 563876
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gab.com Text
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English Wikipedia
The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and
Cervical Adenitis Syndrome: A Review of Current Research
#MMPMID26457006
Kraszewska-G?omba B
; Matkowska-Kocjan A
; Szenborn L
Mediators Inflamm
2015[]; 2015
(ä): 563876
PMID26457006
show ga
BACKGROUND: PFAPA syndrome is a chronic disease that is characterized by
recurrent episodes of high fever, aphthous stomatitis, pharyngitis, and cervical
adenitis. Knowledge regarding the etiology of PFAPA is limited. OBJECTIVES: To
provide up-to-date information considering etiology of PFAPA syndrome, by
summarizing what has been explored and established in this area so far. MATERIALS
AND METHODS: PubMed, Web of Science, and Scopus databases were searched for
pertinent reports. Eventually 19 articles were selected. The results were
classified into categories regarding three areas of interest: familial
occurrence, genetic basis, and immunological mechanisms of PFAPA. RESULTS: Recent
findings suggest that there is a familial tendency to PFAPA but the level of
evidence does not warrant definite conclusions. The absence of a clear monogenic
trait indicates a heterogenous, polygenic, or complex inheritance of PFAPA
syndrome. As two mutations with a possible functional effect on the inflammasomes
(MEFV E148Q and NLRP3 Q703K) have been found in several PFAPA cohorts, the role
of inflammasome-related genes in PFAPA pathogenesis cannot be excluded.
Immunological mechanisms of PFAPA involve an abnormal, IL-1? dependent innate
immune response to an environmental trigger, which leads to Th1-driven
inflammation expressed by recruitment of T-cells to the periphery.