Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease
Autoinflammatory diseases are caused by inflammasome dysregulation leading to overproduction of proinflammatory cytokines and a pathological delay in the inflammation switching off. The progress of cellular biology has partially clarified pathogenic mechanisms behind monogenic autoinflammatory disea...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Mediators of Inflammation |
| Online Access: | http://dx.doi.org/10.1155/2015/570418 |
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| author | Marco Cattalini Martina Soliani Donato Rigante Giuseppe Lopalco Florenzo Iannone Mauro Galeazzi Luca Cantarini |
| author_facet | Marco Cattalini Martina Soliani Donato Rigante Giuseppe Lopalco Florenzo Iannone Mauro Galeazzi Luca Cantarini |
| author_sort | Marco Cattalini |
| collection | DOAJ |
| description | Autoinflammatory diseases are caused by inflammasome dysregulation leading to overproduction of proinflammatory cytokines and a pathological delay in the inflammation switching off. The progress of cellular biology has partially clarified pathogenic mechanisms behind monogenic autoinflammatory diseases, whereas little is known about the polygenic ones. Although the genetic susceptibility of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome is still obscure, the presence of overlapping symptoms with monogenic periodic fevers, the recurrence in family members, the important role played by dysregulated interleukin- (IL-) 1β secretion during flares, the overexpression of inflammasome-associated genes during attacks, and, last but not least, the therapeutic efficacy of IL-1β blockade strongly indicate a potential genetic involvement in its pathogenesis, probably linked with environmental factors. PFAPA syndrome has a typical inception in the pediatric age, but a delayed onset during adulthood has been described as well. Treatments required as well as effectiveness of tonsillectomy remain controversial, even if the disease seems to have a self-limited course mostly in children. The purpose of this review is to provide an overview of this complex polygenic/multifactorial autoinflammatory disorder in which the innate immune system undoubtedly plays a basic role. |
| format | Article |
| id | doaj-art-ed074854b5fb427c9be2a86ab260fc2b |
| institution | DOAJ |
| issn | 0962-9351 1466-1861 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Mediators of Inflammation |
| spelling | doaj-art-ed074854b5fb427c9be2a86ab260fc2b2025-08-20T03:21:12ZengWileyMediators of Inflammation0962-93511466-18612015-01-01201510.1155/2015/570418570418Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of DiseaseMarco Cattalini0Martina Soliani1Donato Rigante2Giuseppe Lopalco3Florenzo Iannone4Mauro Galeazzi5Luca Cantarini6Pediatric Clinic, University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, ItalyPediatric Clinic, University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, ItalyInstitute of Pediatrics, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, 00168 Rome, ItalyInterdisciplinary Department of Medicine, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, ItalyInterdisciplinary Department of Medicine, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, ItalyResearch Center of Systemic Autoinflammatory Diseases and Behcet’s Disease Clinic, University of Siena, Viale Bracci 1, 53100 Siena, ItalyResearch Center of Systemic Autoinflammatory Diseases and Behcet’s Disease Clinic, University of Siena, Viale Bracci 1, 53100 Siena, ItalyAutoinflammatory diseases are caused by inflammasome dysregulation leading to overproduction of proinflammatory cytokines and a pathological delay in the inflammation switching off. The progress of cellular biology has partially clarified pathogenic mechanisms behind monogenic autoinflammatory diseases, whereas little is known about the polygenic ones. Although the genetic susceptibility of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome is still obscure, the presence of overlapping symptoms with monogenic periodic fevers, the recurrence in family members, the important role played by dysregulated interleukin- (IL-) 1β secretion during flares, the overexpression of inflammasome-associated genes during attacks, and, last but not least, the therapeutic efficacy of IL-1β blockade strongly indicate a potential genetic involvement in its pathogenesis, probably linked with environmental factors. PFAPA syndrome has a typical inception in the pediatric age, but a delayed onset during adulthood has been described as well. Treatments required as well as effectiveness of tonsillectomy remain controversial, even if the disease seems to have a self-limited course mostly in children. The purpose of this review is to provide an overview of this complex polygenic/multifactorial autoinflammatory disorder in which the innate immune system undoubtedly plays a basic role.http://dx.doi.org/10.1155/2015/570418 |
| spellingShingle | Marco Cattalini Martina Soliani Donato Rigante Giuseppe Lopalco Florenzo Iannone Mauro Galeazzi Luca Cantarini Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease Mediators of Inflammation |
| title | Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease |
| title_full | Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease |
| title_fullStr | Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease |
| title_full_unstemmed | Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease |
| title_short | Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease |
| title_sort | basic characteristics of adults with periodic fever aphthous stomatitis pharyngitis and adenopathy syndrome in comparison with the typical pediatric expression of disease |
| url | http://dx.doi.org/10.1155/2015/570418 |
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