Successful Hematopoietic Stem Cell Transplantation in 2 Children with X-Linked Chronic Granulomatous Disease from Their Unaffected HLA-Identical Siblings Selected Using Preimplantation Genetic Diagnosis Combined with HLA Typing

Oxidative burst activity of neutrophils, expression of gp91^phox, and hematopoietic chimerism. Both H₂O₂-producing granulocytes after phorbol myristate acetate stimulation by fluorescent activated cell sorting analysis (DHR test) and expression of gp91^phox posttransplantation were corrected after transplantation. DHR before transplantation (A and B) showed neutrophils with no oxidative burst activity, whereas both DHR (C and D) and gp91^phox expression (E and F) at 18 and 13 months posttransplantation, respectively, for patients 1 and 2 showed 100% corrected neutrophils for patient 1 and a 50% mosaicism for patient 2. Hematopoietic chimerism analysis by STR-PCR at 18 and 13 months posttransplantation, respectively, for patients 1 and 2 revealed 100% donor genotype (G and H). Lane 1, donor; lane 2, recipient; lane 3, recipient posttransplantaton.