Immune diseases caused by mutations in kinases and components of the ubiquitin system

Nat Immunol. 2014 Jun;15(6):521-9. doi: 10.1038/ni.2892.


The signaling networks that control the immune system are coordinated by a myriad of interconnecting phosphorylation and ubiquitylation events. This review provides an overview of mutations in human genes encoding these proteins that give rise to immune diseases. Analysis of the biological effects of these mutations has revealed the true physiological roles of particular signaling networks and promises to revolutionize the treatment of these diseases.

Publication types

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

MeSH terms

  • Humans
  • Immune System Diseases / genetics*
  • Mutation
  • Phosphorylation / genetics
  • Protein Kinases / genetics*
  • Signal Transduction / genetics*
  • Signal Transduction / immunology*
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitination / genetics


  • Ubiquitin-Protein Ligases
  • Protein Kinases