ImmunologybioRxivPreprint
Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system
Nicole C. Guilz, Yong‐Oon Ahn, Seungmae Seo…·Emily Margaret Mace
The paper identifies a CDC45 variant causing immune disease with allelic bias, linking it to NK cell dysfunction and variable expressivity in a family.
DOI 10.64898/2026.03.04.709645