Figure 1. Decreased frequency of peripheral blood NK cells with overrepresentation of the CD56^bright subset in an individual with compound heterozygous mutations in MCM10.

Severe CMV infection in the male proband born to healthy parents led to evaluation of peripheral blood NK cells and whole exome sequencing of the proband and his immediate family. (A) Flow cytometric analysis of peripheral blood NK cells from a representative healthy donor (left) and the proband (right). NK cells are defined as CD56⁺CD3⁻. The relative frequency of CD56^bright NK cells within the NK cell subset is defined by density of CD56 staining (histograms). (B) Whole exome sequencing identified compound heterozygous mutations that were rare and predicted to be damaging with familial segregation. (C) Location of identified variants relative to MCM10 domains. Dashed line indicates previously defined NLS (32). NTD, N-terminal domain; ID, internal domain; CTD, C-terminal domain.