AR POLE2 deficiency was recently described in a 5-year-old Saudi-origin boy who had a history of omphalitis and erythroderma in the neonatal period, systemic Bacillus Calmette-Guerin (BCG) infection after immunization, multiple respiratory infections, diabetes mellitus at age 5 months of age, severe dyspnea and hypoxia, hepatomegaly, and hypothyroidism at 8 months of age [75]. Here, AR is linked to hyperinsulinemic hypoglycemia, familial, 4.