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Review
. 2021 Nov;40(11):4437-4444.
doi: 10.1007/s10067-021-05770-z. Epub 2021 May 20.

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome: an overview of genetic background

Kosar Asna Ashari  1 , Nima Rezaei  2   3   4
Affiliations
Review

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome: an overview of genetic background

Kosar Asna Ashari et al. Clin Rheumatol. 2021 Nov.

Abstract

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is an autoinflammatory disorder with an uncertain origin. PFAPA manifestations occur in the form of regular attacks accompanied by a rise in inflammatory markers. Regarding the family clustering of PFAPA and its similarities with other autoinflammatory disorders such as familial Mediterranean fever, a genetic basis is suggested for the disease. Studies have conducted genome analysis in order to find possible gene variants in PFAPA. Associations with variations in several genes such as MEFV, NLRP, TNFRSF1A, CARD15/NOD2, and MVK have been suggested and analyzed. Inflammasomes, intracellular proteins that are members of innate immunity and activate interleukin-1b (IL-1b) and IL-18, are proposed to be involved in PFAPA pathogenesis. The investigations show that a single gene cannot be found in association with PFAPA, and that it might have a multifactorial or polygenic basis, in which an environmental trigger can provoke inflammasome activation and activate PFAPA flares.

Keywords: Gene variants; Inflammasomes; PFAPA; Polygenic disorder.

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