Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases
Joint Authors
Vitale, Antonio
Cantarini, Luca
Renieri, Alessandra
Frediani, Bruno
Gelardi, Viviana
Gaggiano, Carla
Fabbiani, Alessandra
Capozio, Giovanna
Marzo, Chiara
Grosso, Salvatore
Rigante, Donato
Lucherini, Orso Maria
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-29, 29 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-12-31
Country of Publication
Egypt
No. of Pages
29
Main Subjects
Abstract EN
Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube, and/or the central nervous system, with reactive amyloidosis as a potential severe long-term consequence.
Although individually uncommon, all mAIDs set up an emerging chapter of internal medicine: recent findings have modified our knowledge regarding mAID pathophysiology and clarified that protean inflammatory symptoms can be variably associated with periodic fevers, depicting multiple specific conditions which usually start in childhood, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome, and mevalonate kinase deficiency.
There are no evidence-based studies to establish which potential genotype analysis is the most appropriate in adult patients with clinical phenotypes suggestive of mAIDs.
This review discusses genetic and clinical hints for an ideal diagnostic approach to mAIDs in adult patients, as their early identification is essential to prompt effective treatment and improve quality of life, and also highlights the most recent developments in the diagnostic work-up for the most frequent hereditary periodic febrile syndromes worldwide.
American Psychological Association (APA)
Gaggiano, Carla& Rigante, Donato& Vitale, Antonio& Lucherini, Orso Maria& Fabbiani, Alessandra& Capozio, Giovanna…[et al.]. 2019. Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. Mediators of Inflammation،Vol. 2019, no. 2019, pp.1-29.
https://search.emarefa.net/detail/BIM-1192801
Modern Language Association (MLA)
Gaggiano, Carla…[et al.]. Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. Mediators of Inflammation No. 2019 (2019), pp.1-29.
https://search.emarefa.net/detail/BIM-1192801
American Medical Association (AMA)
Gaggiano, Carla& Rigante, Donato& Vitale, Antonio& Lucherini, Orso Maria& Fabbiani, Alessandra& Capozio, Giovanna…[et al.]. Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. Mediators of Inflammation. 2019. Vol. 2019, no. 2019, pp.1-29.
https://search.emarefa.net/detail/BIM-1192801
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1192801