Aug 2026
A quantitative definition of the clinical manifestations of GATA2 deficiency in adults.
Germline GATA2 deficiency is a pleiotropic condition 1-8 characterized by numerous phenotypes, including monocytopenia, immunodeficiency, microbial susceptibilities, and high rates of myeloid malignancies 1,8. Accurate curation of germline GATA2 variants is critical for patient care and requires well-defined phenotypes...
S. Mohan, Tilda E Carlelycke, Ashwin L Koppayi et al.
· Blood · 0 citations