allogeneic hematopoietic stem cells (National Cancer Institute)

Allogeneic hematopoietic stem cell transplantation (HSCT) is a cellular therapy being evaluated by the National Cancer Institute (NCI) for the treatment of GATA2 deficiency and its clinical manifestation, MonoMAC syndrome. GATA2 deficiency is a rare genetic disorder caused by mutations in the GATA2 gene, which leads to monocytopenia, mycobacterial infections (MonoMAC), and a high predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The procedure involves the infusion of healthy, donor-derived hematopoietic stem cells following a conditioning regimen of chemotherapy (such as busulfan, fludarabine, and cyclophosphamide) and sometimes total body irradiation. These donor cells engraft in the recipient's bone marrow, restoring normal hematopoiesis and immune function by replacing the defective GATA2-mutant cell population with healthy cells capable of normal GATA2 expression.

Other names

allogeneic HSCTallogeneic hematopoietic stem cell transplantallogeneic hematopoietic progenitor cell transplantation