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Diagnosis of GATA2 haplo-insufficiency in a young woman prompted by pancytopenia with deficiencies of B-cell and dendritic cell development

BACKGROUND: GATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficiency, but i...

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Detalles Bibliográficos
Autores principales:	Sanyi, Allen, Jaye, David L., Rosand, Cecilia B., Box, Amanda, Shanmuganathan, Chandrakasan, Waller, Edmund K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863442/ https://www.ncbi.nlm.nih.gov/pubmed/29588856 http://dx.doi.org/10.1186/s40364-018-0127-x

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