Human genetics of infectious diseases: between proof of principle and paradigm

J Clin Invest. 2009 Sep;119(9):2506-14. doi: 10.1172/JCI38111.


The observation that only a fraction of individuals infected by infectious agents develop clinical disease raises fundamental questions about the actual pathogenesis of infectious diseases. Epidemiological and experimental evidence is accumulating to suggest that human genetics plays a major role in this process. As we discuss here, human predisposition to infectious diseases seems to cover a continuous spectrum from monogenic to polygenic inheritance. Although many studies have provided proof of principle that infectious diseases may result from various types of inborn errors of immunity, the genetic determinism of most infectious diseases in most patients remains unclear. However, in the future, studies in human genetics are likely to establish a new paradigm for infectious diseases.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Communicable Diseases / genetics*
  • Communicable Diseases / history
  • Communicable Diseases / immunology
  • Female
  • Genetic Predisposition to Disease
  • Genetics, Medical / history
  • Genome, Human
  • History, 19th Century
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology
  • Male
  • Models, Genetic
  • Pedigree