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

Autoimmun Rev. 2012 Aug;11(10):754-65. doi: 10.1016/j.autrev.2012.02.001. Epub 2012 Feb 23.


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.

Publication types

  • Review
  • Validation Study

MeSH terms

  • Age of Onset
  • Autoantigens / chemistry
  • Autoantigens / genetics
  • Autoantigens / immunology
  • Autoimmune Diseases / classification
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / epidemiology*
  • Humans
  • Inflammation / epidemiology
  • Inflammation / immunology
  • Inflammation / physiopathology
  • Mutation / immunology
  • Organ Specificity / immunology
  • Practice Guidelines as Topic / standards
  • Prevalence
  • Proteome / genetics
  • Proteome / immunology
  • Sex Characteristics


  • Autoantigens
  • Proteome