Understanding the immunological impact of the human mutation explosion

Trends Immunol. 2013 Mar;34(3):99-106. doi: 10.1016/j.it.2012.12.001. Epub 2013 Jan 16.


The recent development of human exome sequencing technology has revealed that our immune system is riddled with more genetic defects than anyone imagined. As a legacy of the recent human population explosion, we each inherit hundreds of rare mutations that alter the sequence of proteins. This mutation load is ten times higher than that induced by experimental treatment of mice by ethylnitrosourea; a high fraction of which has substantial effects on immune function. This mutation burden is likely to be a major factor in the incidence of many human immune disorders, but understanding this at the level of individual patients will require new bioinformatics and experimental strategies to assess the impact of individual and combined mutations on immune response pathways.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Computational Biology
  • Exome
  • Humans
  • Immune System Diseases / genetics*
  • Immunity / genetics*
  • Mice
  • Mutation / immunology*
  • Proteins / genetics*
  • Sequence Analysis, DNA


  • Proteins