Clinical, molecular, and genetic characteristics of PAPA syndrome: A review

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

doi:10.2174/138920210793175921

Clinical, molecular, and genetic characteristics of PAPA syndrome: A review

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

Research output: Contribution to journal › Article › peer-review

147 Scopus citations

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.

Original language	English (US)
Pages (from-to)	519-527
Number of pages	9
Journal	Current Genomics
Volume	11
Issue number	7
DOIs	https://doi.org/10.2174/138920210793175921
State	Published - 2010

Keywords

Anakinra
Auto-inflammatory disease
CD2BP1
IL-1β
Microarray transcript profiling
Neutrophils
PAPA syndrome
PSTPIP1
PTP-PEST
Pyrin

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

keywords = "Anakinra, Auto-inflammatory disease, CD2BP1, IL-1β, Microarray transcript profiling, Neutrophils, PAPA syndrome, PSTPIP1, PTP-PEST, Pyrin",

author = "Smith, {Elisabeth J.} and Florence Allantaz and Lynda Bennett and Dongping Zhang and Xiaochong Gao and Geryl Wood and Kastner, {Daniel L.} and Marilynn Punaro and Ivona Aksentijevich and Virginia Pascual and Wise, {Carol A.}",

year = "2010",

doi = "10.2174/138920210793175921",

language = "English (US)",

volume = "11",

pages = "519--527",

journal = "Current Genomics",

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TY - JOUR

T1 - Clinical, molecular, and genetic characteristics of PAPA syndrome

T2 - A review

AU - Smith, Elisabeth J.

AU - Allantaz, Florence

AU - Bennett, Lynda

AU - Zhang, Dongping

AU - Gao, Xiaochong

AU - Wood, Geryl

AU - Kastner, Daniel L.

AU - Punaro, Marilynn

AU - Aksentijevich, Ivona

AU - Pascual, Virginia

AU - Wise, Carol A.

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Anakinra

KW - Auto-inflammatory disease

KW - CD2BP1

KW - IL-1β

KW - Microarray transcript profiling

KW - Neutrophils

KW - PAPA syndrome

KW - PSTPIP1

KW - PTP-PEST

KW - Pyrin

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M3 - Article

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AN - SCOPUS:78650006414

SN - 1389-2029

VL - 11

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EP - 527

JO - Current Genomics

JF - Current Genomics

IS - 7

ER -

Clinical, molecular, and genetic characteristics of PAPA syndrome: A review

Abstract

Keywords

ASJC Scopus subject areas

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