title: Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.
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.
authors.affiliation: Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Scottish Rite Hospital for Children, Dallas, Texas 75219.
authors.forename: Elisabeth J
authors.initials: EJ
authors.lastname: Smith
authors.forename: Florence
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authors.lastname: Allantaz
authors.forename: Lynda
authors.initials: L
authors.lastname: Bennett
authors.forename: Dongping
authors.initials: D
authors.lastname: Zhang
authors.forename: Xiaochong
authors.initials: X
authors.lastname: Gao
authors.forename: Geryl
authors.initials: G
authors.lastname: Wood
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Kastner
authors.forename: Marilynn
authors.initials: M
authors.lastname: Punaro
authors.forename: Ivona
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: Virginia
authors.initials: V
authors.lastname: Pascual
authors.forename: Carol A
authors.initials: CA
authors.lastname: Wise