Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency

摘要: We performed nonmyeloablative HSCT in 6 patients with a newly described genetic immunodeficiency syndrome caused by mutations GATA2—a disease characterized nontuberculous mycobacterial infection, monocytopenia, B- and NK-cell deficiency, the propensity to transform myelodysplastic syndrome/acute myelogenous leukemia. Two received peripheral blood stem cells (PBSCs) from matched-related donors, 2 PBSCs matched-unrelated umbilical cord (UCB) donors. Recipients of -unrelated donors fludarabine 200 cGy total body irradiation (TBI); UCB recipients cyclophosphamide addition TBI as conditioning. All tacrolimus sirolimus posttransplantation. Five were alive at median follow-up 17.4 months (range, 10-25). achieved high levels donor engraftment hematopoietic compartments that deficient pretransplantation. Adverse events consisted delayed recipient single UCB, GVHD 4 patients, immune-mediated pancytopenia nephrotic double transplantation. Nonmyeloablative GATA2 deficiency results reconstitution severely monocyte, B-cell, populations reversal clinical phenotype. Registered www.clinicaltrials.gov NCT00923364.