Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation

Unlike GATA2-deficient marrow, both dendritic cells and B-cell precursors were present. Because of her recent intensive care hospitalization, invasive fusariosis, and 3-month history of refractory neutropenia, the patient underwent haploidentical HSCT from her 17-year-old sister, who had normal blood cell counts (Table I) and no history suggestive of immunodeficiency. On day 0 she received 1.24 x 108 total nucleated cells/kg and 0.48 x 106 CD34+ cells/kg from her donor. Because of low donor bone marrow cell dose, the donor was remobilized with filgrastim for 4 days along with a single dose of plerixafor 20 mg/kg subcutaneously 15 hours before apheresis.