Monogenic Autoinflammatory Syndromes : State of the Art on Genetic, Clinical, and Therapeutic Issues
Joint Authors
Vitale, Antonio
Caso, Paolo
Compagnone, Adele
Cantarini, Luca
Atteno, Mariangela
Rigante, Donato
Punzi, Leonardo
Costa, Luisa
Caso, Francesco
Frediani, Bruno
Lucherini, Orso Maria
Galeazzi, Mauro
Source
International Journal of Rheumatology
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-15, 15 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-24
Country of Publication
Egypt
No. of Pages
15
Main Subjects
Abstract EN
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset.
To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist.
Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation.
The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.
American Psychological Association (APA)
Caso, Francesco& Rigante, Donato& Vitale, Antonio& Lucherini, Orso Maria& Costa, Luisa& Atteno, Mariangela…[et al.]. 2013. Monogenic Autoinflammatory Syndromes : State of the Art on Genetic, Clinical, and Therapeutic Issues. International Journal of Rheumatology،Vol. 2013, no. 2013, pp.1-15.
https://search.emarefa.net/detail/BIM-477635
Modern Language Association (MLA)
Caso, Francesco…[et al.]. Monogenic Autoinflammatory Syndromes : State of the Art on Genetic, Clinical, and Therapeutic Issues. International Journal of Rheumatology No. 2013 (2013), pp.1-15.
https://search.emarefa.net/detail/BIM-477635
American Medical Association (AMA)
Caso, Francesco& Rigante, Donato& Vitale, Antonio& Lucherini, Orso Maria& Costa, Luisa& Atteno, Mariangela…[et al.]. Monogenic Autoinflammatory Syndromes : State of the Art on Genetic, Clinical, and Therapeutic Issues. International Journal of Rheumatology. 2013. Vol. 2013, no. 2013, pp.1-15.
https://search.emarefa.net/detail/BIM-477635
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-477635