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What is PFAPA syndrome? Genetic clues about the pathogenesis

Kalpana Manthiram1

  • 1Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

Current Opinion in Rheumatology
|July 19, 2023
PubMed

Insights

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a complex genetic disorder. New research links PFAPA to Behçet's disease and identifies genetic factors influencing treatment response.

Area of Science:

  • Pediatric Rheumatology
  • Immunology
  • Genetics

Background:

  • Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most prevalent periodic fever disorder in children.
  • Recent research has identified genetic susceptibility variants associated with PFAPA syndrome.

Conclusions:

  • PFAPA phenotypes are heterogeneous, influenced by shared genetic susceptibility and therapeutic responses.
  • Understanding the genetic architecture of PFAPA and related conditions is crucial for accurate diagnosis and management.
  • These findings necessitate a re-evaluation of PFAPA diagnostic criteria and classification.
Abstract

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