Human NK cell deficiency as a result of biallelic mutations in MCM10
E. Mace, S. Paust, M. I. Conte, R. M. Baxley, M. Schmit, N. C. Guilz, M. Mukherjee, A. E. Pezzi, J. Chmielowiec, S. Tatineni, I. K. Chinn, Z. C. Akdemir, S. N. Jhangiani, D. M. Muzny, A. Stray-Pedersen, , J. Orange
This study identifies biallelic MCM10 mutations as a cause of human NK cell deficiency, showing impaired NK cell maturation and function in a patient with CMV susceptibility.
bioRxiv · Nov 7, 2019Immunology