Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

Title: Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

Volume: 11 Issue: 7

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

Affiliation:

Keywords: Auto-inflammatory disease, PAPA syndrome, PSTPIP1, CD2BP1, PTP-PEST, pyrin, neutrophils, microarray transcript profiling, anakinra, IL-1β, disease, syndrome, microarray, (FMF), (TRAPS), (HIDS), (FCAS), (MWS), (NOMID), (DIRA), (CGD), Mutation Screening, arthritis, (IL-1), (TNF), CD2, CCTG, PSTPIP2, CRMO, WASP, HSCF, LPS, PBMCs, SoJIA, SLE, IL 1-β

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.

Cite this article as:

J. Smith Elisabeth, Allantaz Florence, Bennett Lynda, Zhang Dongping, Gao Xiaochong, Wood Geryl, L. Kastner Daniel, Punaro Marilynn, Aksentijevich Ivona, Pascual Virginia and A. Wise Carol, Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review, Current Genomics 2010; 11 (7) . https://dx.doi.org/10.2174/138920210793175921