POLE and immunodeficiency disease: Whole-genome sequencing of two patients with microcephalic dwarfism, intrauterine growth retardation, immunodeficiency, and endocrine insufficiencies identified compound heterozygous mutations in POLE1 for the same intronic variant, c.168+32C > G, and a further mutation predicted to result in loss of POLE1 functional transcripts (C.L., J.E. Murray et al., unpublished data; see clinical synopsis in STAR Methods).