Molecular pathology selected abstracts
October 2025—GATA2 deficiency is a rare inherited condition that disrupts the normal development of blood and immune cells. People born with this genetic disorder may experience low blood counts, frequent infections, or such problems as lymphedema and hearing loss. The most serious long-term risk is development of myelodysplastic syndrome (MDS), a bone marrow disorder that can progress to leukemia. The authors conducted a large study in which they followed 218 people with confirmed GATA2 mutations to understand when and how MDS develops. In this cohort, symptoms of GATA2 deficiency were present in 205 of the participants, of whom 187 (91.2 percent) had MDS.