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
Current Genomics
Title: Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review
Volume: 11 Issue: 7
Author(s): Elisabeth J. Smith, Florence Allantaz, Lynda Bennett, Dongping Zhang, Xiaochong Gao, Geryl Wood, Daniel L. Kastner, Marilynn Punaro, Ivona Aksentijevich, Virginia Pascual and Carol A. Wise
Affiliation:
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
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.
Export Options
About this article
Cite this article as:
J. Smith Elisabeth, Allantaz Florence, Bennett Lynda, Zhang Dongping, Gao Xiaochong, Wood Geryl, L. Kastner Daniel, Punaro Marilynn, Aksentijevich Ivona, Pascual Virginia and A. Wise Carol, Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review, Current Genomics 2010; 11 (7) . https://dx.doi.org/10.2174/138920210793175921
DOI https://dx.doi.org/10.2174/138920210793175921 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Possibilities of Two-Dimensional Gel Electrophoresis in the Understanding of Human Disease
Current Proteomics Nanomedicines as Cancer Therapeutics: Current Status
Current Cancer Drug Targets Chronic Heart Failure- Potential for Pharmacological Intervention
Current Medicinal Chemistry - Cardiovascular & Hematological Agents Regulation of Inflammation and Myocardial Fibrosis in Experimental Autoimmune Myocarditis
Inflammation & Allergy - Drug Targets (Discontinued) Peripartum Cardiomyopathy: An Intensivist's Perspective
Current Women`s Health Reviews Myostatin Inhibition and Cardiometabolic Disorders
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Anti-Inflammatory Treatments for Chronic Diseases: A Review
Inflammation & Allergy - Drug Targets (Discontinued) Nutritional Control, Gene Regulation, and Transformation of Vascular Smooth Muscle Cells in Atherosclerosis
Cardiovascular & Hematological Disorders-Drug Targets Cardiovascular Risk Factors in Chronic Inflammatory Rheumatic Diseases: Modern Assessment and Diagnosis
Current Vascular Pharmacology Ibubrofen in the Treatment of Patent Ductus Arteriosus in Preterm Infants: What We Know, What We Still Do Not Know
Current Pharmaceutical Design Blood Pressure Variability and Mortality in end Stage Renal Disease
Current Hypertension Reviews New Pharmacological Approaches in Infants with Hypoxic-Ischemic Encephalopathy
Current Pharmaceutical Design Recommendations for the Treatment of Hypertension in Elderly People
Cardiovascular & Hematological Agents in Medicinal Chemistry Stress, Cardiovascular Diseases and Surgery-Induced Angiogenesis
Current Angiogenesis (Discontinued) Hyperglycemia-induced Oxidative Stress and its Role in Diabetes Mellitus Related Cardiovascular Diseases
Current Pharmaceutical Design Interindividual Variability in the Efficacy of Oral Antiplatelet Drugs: Definitions, Mechanisms and Clinical Importance
Current Pharmaceutical Design Antimicrobial Action of Chelating Agents: Repercussions on the Microorganism Development, Virulence and Pathogenesis
Current Medicinal Chemistry Novel Inflammatory Markers in Hyperlipidemia: Clinical Implications
Current Medicinal Chemistry Q Fever Endocarditis
Infectious Disorders - Drug Targets In Vitro CYP2D Inhibitory Effect and Influence on Pharmacokinetics and Pharmacodynamic Parameters of Metoprolol Succinate by Terminalia arjuna in Rats
Drug Metabolism Letters