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Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.

Martina GirardelliErica ValencicValentina MoressaRoberta MargagliottaAlessandra TesserSerena PastoreOttavia SpadolaEmmanouil AthanasakisGiovanni Maria SeveriniAndrea TaddioAlberto Tommasini
Published in: Pediatric rheumatology online journal (2021)
Although recurrent aphthous stomatitis associated with systemic inflammation may lead to a clinical diagnosis of BD or SLE, subjects with early disease onset in childhood deserve genetic investigation for rare monogenic disorders. A wider genetic panel may help disclosing the genetic background in the subset of children with increased interferon score, who tested negative in this study.
Keyphrases
  • genome wide
  • copy number
  • young adults
  • systemic lupus erythematosus
  • dendritic cells
  • gene expression