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Updated assessment of the prevalence, spectrum and case definition of autoimmune disease

Hayter, Scott M; Cook, Matthew C

Description

Autoimmune diseases are heterogeneous with regard to prevalence, manifestations, and pathogenesis. The classification of autoimmune diseases has varied over time. Here, we have compiled a comprehensive up-to-date list of the autoimmune diseases, and have reviewed published literature to estimate their prevalence. We identified 81 autoimmune diseases. The overall estimated prevalence is 4.5%, with 2.7% for males and 6.4% for females. For specific diseases, prevalence ranges from 1% to < 1/106....[Show more]

dc.contributor.authorHayter, Scott M
dc.contributor.authorCook, Matthew C
dc.date.accessioned2014-02-23T23:48:28Z
dc.date.available2014-02-23T23:48:28Z
dc.identifier.issn1568-9972
dc.identifier.urihttp://hdl.handle.net/1885/11411
dc.description.abstractAutoimmune diseases are heterogeneous with regard to prevalence, manifestations, and pathogenesis. The classification of autoimmune diseases has varied over time. Here, we have compiled a comprehensive up-to-date list of the autoimmune diseases, and have reviewed published literature to estimate their prevalence. We identified 81 autoimmune diseases. The overall estimated prevalence is 4.5%, with 2.7% for males and 6.4% for females. For specific diseases, prevalence ranges from 1% to < 1/106. Considering all diseases in the class, the most common mean age-of-onset was 40–50 years. This list of autoimmune diseases has also yielded information about autoantigens. Forty-five autoimmune diseases have been associated with well-defined autoantigens. Of the diseases with known autoantigens, 33.3% had highly repetitive sequences, 35.6% had coiled-coil arrangements and 57.8% were associated with cellular membranes, which means that based on these structural motifs alone, autoantigens do not appear to be a random sample of the human proteome. Finally, we identified 19 autoimmune diseases that phenocopy diseases arising from germline mutations in the corresponding autoantigen. Collectively, our findings lead to a tentative proposal for criteria for assigning autoimmune pathogenesis to a particular disease.
dc.format12 pages
dc.publisherElsevier
dc.rightshttp://www.sherpa.ac.uk/romeo/issn/1568-9972/author can archive pre-print (ie pre-refereeing);author cannot archive publisher's version/PDF
dc.sourceAutoimmunity Reviews 11.10 (2012): 754–765
dc.subjectautoantigen
dc.subjectepidemiology
dc.subjectphenocopy
dc.subjectprevalence
dc.subjectcriteria
dc.titleUpdated assessment of the prevalence, spectrum and case definition of autoimmune disease
dc.typeJournal article
local.identifier.citationvolume11
dcterms.dateAccepted2012-01-31
dc.date.issued2012-02-23
local.identifier.absfor110700 - IMMUNOLOGY
local.identifier.ariespublicationu4971216xPUB156
local.publisher.urlhttp://www.elsevier.com/
local.type.statusPublished Version
local.contributor.affiliationHayter, Scott M, Australian National University Medical School
local.contributor.affiliationCook, Matthew C, Australian National University Medical School
local.bibliographicCitation.issue10
local.bibliographicCitation.startpage754
local.bibliographicCitation.lastpage765
local.identifier.doi10.1016/j.autrev.2012.02.001
dc.date.updated2015-12-08T10:58:50Z
local.identifier.scopusID2-s2.0-84864385195
local.identifier.thomsonID000307798800010
CollectionsANU Research Publications

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