Germ-line @entity12627 gene mutations, leading to haploinsufficiency, have been identified in @entity1 with familial myelodysplastic syndrome/acute myeloid leukemia, monocytopenia and mycobacterial infections, Emberger syndrome, and dendritic cell, monocyte, B-, and NK-cell deficiency. @entity12627 mutations have also been reported in a minority of @entity1 with congenital neutropenia and aplastic anemia (AA). The bone marrow (BM) from @entity1 with @entity12627 deficiency is typically hypocellular, with varying degrees of dysplasia. Distinguishing @entity12627 @entity1 from those with AA is critical for selecting appropriate therapy. We compared the BM flow cytometric, morphologic, and cytogenetic features of 28 @entity12627 @entity1 with those of 32 @entity1 being evaluated for idiopathic AA. The marrow of @entity12627 @entity1 had severely reduced monocytes, B cells, and NK cells; absent hematogones; and inverted @entity404 : @entity405 ratios. Atypical megakaryocytes and abnormal cytogenetics were more common in @entity12627 marrows. @entity2280 (+) cells were comparably reduced in @entity12627 and AA. Using these criteria, we prospectively identified 4 of 32 @entity1 with suspected AA who had features suspicious for @entity12627 mutations, later confirmed by DNA sequencing. Our results show that routine BM flow cytometry, morphology, and cytogenetics in @entity1 who present with cytopenia(s) can identify @entity1 for whom @entity12627 sequencing is indicated.

XXXX deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity404 :: ('920', 'Gene') :: ['CD4'] @entity2280 :: ('947', 'Gene') :: ['CD34'] @entity12627 :: ('2624', 'Gene') :: ['GATA2'] @entity405 :: ('925', 'Gene') :: ['CD8']
@entity12627 :: (2624,Gene) :: ['GATA2']
