Article

Characterization of an immunodeficiency-associated EZH2 variant

2025-12-09

Abstract excerpt

Regulation of gene expression is central to the development of immune cells and their ability to respond to infection. As part of a clinical evaluation, we identified two sisters with recurrent infections, hypogammaglobulinemia, and memory B cell deficiency, diagnosed as common variable immunodeficiency. Whole exome sequencing identified a heterozygous variant (Leu50Ser, L50S) in a conserved region of EZH2, the ca...

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Literature Corpus work: 977cd1c3-e2d1-5b7d-bee8-1df41beee22a
DOI: 10.64898/2025.12.08.692979

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