Article
Human NK cell deficiency as a result of biallelic mutations in MCM10.
The Journal of clinical investigation - 1 Oct 2020
Mace Emily M, Paust Silke, Conte Matilde I, Baxley Ryan M, Schmit Megan M, Patil Sagar L, Guilz Nicole C, Mukherjee Malini, Pezzi Ashley E, Chmielowiec Jolanta, Tatineni Swetha, Chinn Ivan K, Akdemir Zeynep Coban, Jhangiani Shalini N, Muzny Donna M, Stray-Pedersen Asbjørg, Bradley Rachel E, Moody Mo, Connor Philip P, Heaps Adrian G, Steward Colin, Banerjee Pinaki P, Gibbs Richard A, Borowiak Malgorzata, Lupski James R, Jolles Stephen, Bielinsky Anja K, Orange Jordan S
Abstract excerpt
Human natural killer cell deficiency (NKD) arises from inborn errors of immunity that lead to impaired NK cell development, function, or both. Through the understanding of the biological perturbations in individuals with NKD, requirements for the generation of terminally mature functional innate effector cells can be elucidated. Here, we report a cause of NKD resulting from compound heterozygous mutations in...
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