Samples from a patient carrying the c.1057G>A E353K STAT1 GOF mutation and a patient with the autosomal dominant form of IFN-γ receptor 1 deficiency carrying the 818del4 mutation were also collected under a NIAID IRB-approved protocol and provided written informed consent. This evidence concerns the gene STAT1 and hyperinsulinemic hypoglycemia, familial, 4.