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 journalArticle

104 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)519-527
Number of pages9
JournalCurrent Genomics
Volume11
Issue number7
StatePublished - 2010

Fingerprint

Molecular Biology
Interleukin-1
Inflammasomes
Mutation
Joint Diseases
Chromosomes
Inflammation
Skin
Pyogenic arthritis, pyoderma gangrenosum, and acne
Research
Genes
Proteins

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)

Cite this

Smith, E. J., Allantaz, F., Bennett, L., Zhang, D., Gao, X., Wood, G., ... Wise, C. A. (2010). Clinical, molecular, and genetic characteristics of PAPA syndrome: A review. Current Genomics, 11(7), 519-527.

Clinical, molecular, and genetic characteristics of PAPA syndrome : A review. / Smith, Elisabeth J.; Allantaz, Florence; Bennett, Lynda; Zhang, Dongping; Gao, Xiaochong; Wood, Geryl; Kastner, Daniel L.; Punaro, Marilynn; Aksentijevich, Ivona; Pascual, Virginia; Wise, Carol A.

In: Current Genomics, Vol. 11, No. 7, 2010, p. 519-527.

Research output: Contribution to journalArticle

Smith, EJ, Allantaz, F, Bennett, L, Zhang, D, Gao, X, Wood, G, Kastner, DL, Punaro, M, Aksentijevich, I, Pascual, V & Wise, CA 2010, 'Clinical, molecular, and genetic characteristics of PAPA syndrome: A review', Current Genomics, vol. 11, no. 7, pp. 519-527.
Smith EJ, Allantaz F, Bennett L, Zhang D, Gao X, Wood G et al. Clinical, molecular, and genetic characteristics of PAPA syndrome: A review. Current Genomics. 2010;11(7):519-527.
Smith, Elisabeth J. ; Allantaz, Florence ; Bennett, Lynda ; Zhang, Dongping ; Gao, Xiaochong ; Wood, Geryl ; Kastner, Daniel L. ; Punaro, Marilynn ; Aksentijevich, Ivona ; Pascual, Virginia ; Wise, Carol A. / Clinical, molecular, and genetic characteristics of PAPA syndrome : A review. In: Current Genomics. 2010 ; Vol. 11, No. 7. pp. 519-527.
@article{03dbb4c2cf7c44d8bf1e2e59ff72e8df,
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",
language = "English (US)",
volume = "11",
pages = "519--527",
journal = "Current Genomics",
issn = "1389-2029",
publisher = "Bentham Science Publishers B.V.",
number = "7",

}

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

UR - http://www.scopus.com/inward/record.url?scp=78650006414&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78650006414&partnerID=8YFLogxK

M3 - Article

C2 - 21532836

AN - SCOPUS:78650006414

VL - 11

SP - 519

EP - 527

JO - Current Genomics

JF - Current Genomics

SN - 1389-2029

IS - 7

ER -