Clinical, molecular, and genetic characteristics of PAPA syndrome: A review

Elisabeth J. Smith, Florence Allantaz, Lynda Bennett, Dongping Zhang, Xiaochong Gao, Geryl Wood, Daniel L. Kastner, Marilynn Punaro, Ivona Aksentijevich, Virginia Pascual, Carol A. Wise

Research output: Contribution to journalArticlepeer-review

132 Scopus citations


PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal dominant, hereditary auto-inflammatory disease arising from mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in activation of the "inflammasome" involved in interleukin-1 (IL-1β) production. Overproduction of IL-1β is a clear molecular feature of PAPA syndrome. Ongoing research is implicating other biochemical pathways that may be relevant to the distinct pyogenic inflammation of the skin and joints characteristic of this disease. This review summarizes the recent and rapidly accumulating knowledge on these molecular aspects of PAPA syndrome and related disorders.

Original languageEnglish (US)
Pages (from-to)519-527
Number of pages9
JournalCurrent Genomics
Issue number7
StatePublished - 2010


  • Anakinra
  • Auto-inflammatory disease
  • CD2BP1
  • IL-1β
  • Microarray transcript profiling
  • Neutrophils
  • PAPA syndrome
  • Pyrin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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