Author
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
E. Mace, S. Paust, M. I. Conte…·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.
W. A. Comrie, M. C. Poli, S. A. Cook…·M. J. Lenardo
Hem1 loss-of-function mutations cause congenital immunodysregulation by disrupting WAVE2 and mTORC2 complexes, leading to immunodeficiency and immune hyperresponsiveness.
A. Vargas Hernandez, E. M. Mace, O. Zimmerman…·L. R. Forbes
This study shows that ruxolitinib partially restores NK cell function in STAT1 GOF patients by reducing STAT1 phosphorylation and improving cytotoxic activity.