Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 disti...

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Autors principals: Hsu, Amy P., Sampaio, Elizabeth P., Khan, Javed, Calvo, Katherine R., Lemieux, Jacob E., Patel, Smita Y., Frucht, David M., Vinh, Donald C., Auth, Roger D., Freeman, Alexandra F., Olivier, Kenneth N., Uzel, Gulbu, Zerbe, Christa S., Spalding, Christine, Pittaluga, Stefania, Raffeld, Mark, Kuhns, Douglas B., Ding, Li, Paulson, Michelle L., Marciano, Beatriz E., Gea-Banacloche, Juan C., Orange, Jordan S., Cuellar-Rodriguez, Jennifer, Hickstein, Dennis D., Holland, Steven M.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2011
Matèries:
Plenary Papers
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3172785/
https://ncbi.nlm.nih.gov/pubmed/21670465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-05-356352
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