Characterization of an immunodeficiency-associated EZH2 variant
Francisco Perez de los Santos, Lily Beck, Emily DeCurtis, April M. Griffin, Maggie M. Balas, Charlotte Marchioni, Attila Kumánovics, Matthew R.G. Taylor, Kimberly Rae Jordan, Charles H. Kirkpatrick, Aaron M. Johnson
This study identifies an EZH2 variant associated with immunodeficiency and shows it impairs PRC2 function by disrupting H3K27me3 methylation at specific genomic regions.
bioRxiv · Jan 21, 2026 · PreprintMolecular Biology