Multiple Opportunistic Infections in a Woman with GATA2 Mutation
oleh: Andrea Vila, Juan I. Dapás, Cynthia V. Rivero, Florencia Bocanegra, Roberto F. Furnari, Amy P. Hsu, Steven M. Holland
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2017-01-01 |
Deskripsi
GATA2 deficiency is a genetic disorder caused by inherited or sporadic haploinsufficient mutations in the GATA2 gene. Patients have abnormalities in hematopoiesis, lymphangiogenesis and immunity; encompassing a broad range of clinical syndromes, mainly characterized by monocytopenia, B and NK cell cytopenia, severe or recurrent infections, and a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). We report a case of an Argentinean woman who presented with multiple opportunistic infections as her first manifestation of GATA2 deficiency.