Affiliation:
1. National Institute for Health Research–Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, Leeds, UK
2. Department of Clinical Immunology and Allergy, St James’s University Hospital, Leeds, UK
Abstract
Abstract
The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory. In addition to the abovementioned monogenic conditions, we describe Schnitzler’s syndrome, a well-defined, acquired autoinflammatory condition without a clear genetic basis. For the purposes of this review, we discuss several conditions defined by the latest consensus process as systemic autoinflammatory diseases. We focus on those disorders where recent studies have contributed to further phenotypic characterization or had an impact on clinical management.
Publisher
Oxford University Press (OUP)
Subject
Pharmacology (medical),Rheumatology
Reference77 articles.
1. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes;McDermott;Cell,1999
2. The 2017 IUIS phenotypic classification for primary immunodeficiencies;Bousfiha;J Clin Immunol,2018
3. A proposed classification of the immunological diseases;McGonagle;PLoS Med,2006
4. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia;Boisson;J Exp Med,2015
5. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDS): a Delphi study;Ben-Chetrit;Ann Rheum Dis,2018
Cited by
23 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献