Human NK cell deficiency as a result of biallelic mutations in MCM10

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 eff...

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Vydáno v:J Clin Invest
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7524476/
https://ncbi.nlm.nih.gov/pubmed/32865517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI134966
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