Abstract
demonstrated a regenerating marrow, with no evidence for residual disease and 100 % donor chimerism. Patient No.3 presented with refractory cytopenia with marrow dysgranulopoiesis and dysmegakaryopoiesis (Childhood MDS). She underwent a 9/10 HLA-DQ MUD transplant. Post-transplant course was complicated by C difficile infection and acute grade 1 skin GVHD. At day 30 she had 100 % donor chimerism. Conclusion: Germline GATA2 mutations are associated with a high frequency of MDS/AML. We describe a family with a non-zinc finger GATA2 mutation causing MDS/AML, profound B/NK deficiency and viral warts and describe the successful role for allo-HCT in this setting.
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