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

Author(s): 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.

Journal Name:Current Genomics

Volume 11 , Issue 7 , 2010

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.

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

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Article Details

VOLUME: 11
ISSUE: 7
Year: 2010
Page: [519 - 527]
Pages: 9
DOI: 10.2174/138920210793175921
Price: $58