Article
Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases - 1 Jan 2017
Vila Andrea, Dapás Juan I, Rivero Cynthia V, Bocanegra Florencia, Furnari Roberto F, Hsu Amy P, Holland Steven M
Abstract excerpt
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...
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