Novel monogenic diseases causing human autoimmunity

Curr Opin Immunol. 2015 Dec:37:1-5. doi: 10.1016/j.coi.2015.07.008. Epub 2015 Aug 8.

Abstract

Fuelled by the on-going sequencing revolution, the last two years have seen a number of exciting discoveries relating to monogenic disorders predisposing to autoimmunity that provide new insights into the function of the human immune system. Here we discuss a selection of these diseases due to mutations in PRKCD, CTLA4, STAT3, IFIH1, TMEM173 and COPA.

Publication types

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

MeSH terms

  • Animals
  • Autoimmune Diseases / genetics*
  • Autoimmunity / genetics
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immune System / physiology*
  • Mutation / genetics