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Autoinflammatory diseases: update on classification diagnosis and management.

Authors
  • Pathak, Shelly1
  • McDermott, Michael F1
  • Savic, Sinisa1, 2
  • 1 National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (NIHR-LMBRU), Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, UK.
  • 2 Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK.
Type
Published Article
Journal
Journal of Clinical Pathology
Publisher
BMJ
Publication Date
January 2017
Volume
70
Issue
1
Pages
1–8
Identifiers
DOI: 10.1136/jclinpath-2016-203810
PMID: 27646526
Source
Medline
Keywords
License
Unknown

Abstract

The spectrum of systemic autoinflammatory disorders broadens continually. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases. Some of the conditions that have been described fit neatly into a conventional idea of autoinflammation. Others, such as interferon-mediated autoinflammatory diseases, are broadening the concept which we consider to be autoinflammatory disorders. There is also a widening of the clinical phenotypes associated with certain genetic mutations, as genetic testing is used more regularly and increasing numbers of patients are screened. It is also increasingly evident that both autoinflammatory and autoimmune problems are frequently seen as complications of primary immunodeficiency disorders. The aim of this review is to provide an update on some recently discovered conditions and to discuss how these disorders help to define the concept of autoinflammation. The review will also cover recent discoveries in the biology of innate-immune-mediated inflammation and describe how this has provided the biological rationale for using anti-interleukin-1 therapies in the treatment of many such conditions. Finally, we discuss the importance of recognising somatic mutations as causes of autoinflammatory clinical phenotypes and provide practical advice on how this could be tackled in everyday clinical practice.

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