Novel monogenic diseases causing human autoimmunity

• PRKCD autosomal recessive mutations cause an ALPS-like disease and SLE.
• Dominant CTLA4 loss of function mutations cause immunodeficiency and autoimmunity.
• Dominant STAT3 gain of function mutations cause autoimmunity and ALPS-like disease.
• IFIH1 and TMEM173 gain of function mutations cause type I interferonopathies.
• COPA heterozygous mutations cause inflammatory lung disease with autoantibodies.

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.