Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Elisabeth J. Smith1,2, Florence Allantaz3, Lynda Bennett3, Dongping Zhang1, Xiaochong Gao1, Geryl Wood4, Daniel L. Kastner4, Marilynn Punaro1, Ivona
- چاپ و سال / کشور: 2010
Description
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-1..) production. Overproduction of IL-1.. 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.
Current Genomics, 2010, 11, 519-527 Received on: June 22, 2010 - Revised on: August 18, 2010 - Accepted on: September 01, 2010
