Novel monogenic diseases causing human autoimmunity

Publication date: December 2015
Source:Current Opinion in Immunology, Volume 37

Author(s): Isabelle Melki, Yanick J Crow

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.