Article
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Blood - 1 Jan 2015
Ganapathi Karthik A, Townsley Danielle M, Hsu Amy P, Arthur Diane C, Zerbe Christa S, Cuellar-Rodriguez Jennifer, Hickstein Dennis D, Rosenzweig Sergio D, Braylan Raul C, Young Neal S, Holland Steven M, Calvo Katherine R
Abstract excerpt
Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in patients with familial myelodysplastic syndrome/acute myeloid leukemia, monocytopenia and mycobacterial infections, Emberger syndrome, and dendritic cell, monocyte, B-, and NK-cell deficiency. GATA2 mutations have also been reported in a minority of patients with congenital neutropenia and aplastic anemia (AA). The bone marrow...
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