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

Scott M. Hayter, Matthew C. Cook*

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

    323 Citations (Scopus)

    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 40-50years. 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.

    Original languageEnglish
    Pages (from-to)754-765
    Number of pages12
    JournalAutoimmunity Reviews
    Volume11
    Issue number10
    DOIs
    Publication statusPublished - Aug 2012

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