Clinical, molecular, and genetic characteristics of PAPA syndrome: A review Academic Article Article uri icon

Overview

MeSH Major

  • Anti-Inflammatory Agents
  • Cytokines
  • Inflammation
  • Interleukins
  • T-Lymphocytes, Regulatory

abstract

  • 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.

publication date

  • December 16, 2010

Research

keywords

  • Academic Article

Identity

PubMed ID

  • 21532836

Additional Document Info

start page

  • 519

end page

  • 27

volume

  • 11

number

  • 7