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Clinical Trial
. 2011 Sep 29;118(13):3715-20.
doi: 10.1182/blood-2011-06-365049. Epub 2011 Aug 3.

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency

Jennifer Cuellar-Rodriguez  1 , Juan Gea-Banacloche, Alexandra F Freeman, Amy P Hsu, Christa S Zerbe, Katherine R Calvo, Jennifer Wilder, Roger Kurlander, Kenneth N Olivier, Steven M Holland, Dennis D Hickstein
Affiliations
Clinical Trial

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency

Jennifer Cuellar-Rodriguez et al. Blood. .

Abstract

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

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Figures

Figure 1
Figure 1
Absolute number of CD3+, CD19+, NK cells, and monocytes before and after HSCT.
Figure 2
Figure 2
Median percentage of donor chimerism. Donor chimerism of CD19+, CD14+, CD3−/CD56+, and CD3+ cells at designated time points after transplantation.
See this image and copyright information in PMC

References

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