In summary, we describe an association between AIRE deficiency and a decrease in STAT1 protein level in primary human monocytes that is not accompanied by decreased STAT1 mRNA levels but correlates with the presence of type I IFN autoantibodies and decreased monocyte surface expression of IFN-γR2. Here, IFNGR2 is linked to hyperinsulinemic hypoglycemia, familial, 4.