title: Updated assessment of the prevalence, spectrum and case definition of autoimmune disease.
abstract: 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 <1/10(6). 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.
authors.affiliation: ANU Medical School, Frank Fenner Building 42, The Australian National University, Canberra, ACT, 0200, Australia.
authors.forename: Scott M
authors.initials: SM
authors.lastname: Hayter
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Cook
mesh_terms: D017668:Age of Onset; D001324:Autoantigens / Q000737:chemistry / Q000235:genetics / Q000276:immunology; D001327:Autoimmune Diseases / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D007249:Inflammation / Q000453:epidemiology / Q000276:immunology / Q000503:physiopathology; D009154:Mutation / Q000276:immunology; D009928:Organ Specificity / Q000276:immunology; D017410:Practice Guidelines as Topic / Q000592:standards; D015995:Prevalence; D020543:Proteome / Q000235:genetics / Q000276:immunology; D012727:Sex Characteristics
chemical_list: D001324:Autoantigens; D020543:Proteome