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- W2051222858 abstract "GATA2-associated disorders include: (i) monocytopenia with mycobacterial infections (MonoMAC); (ii) dendritic cell, monocyte, B and NK lymphoid deficiency; (iii) familial myelodysplastic syndrome (MDS) and acute myeloid leukemia; and (iv) congenital deafness with lower limb lymphedema deficiency (Emberger syndrome). Markedly reduced or absent monocytes have been considered as the hallmark of the disease. Here we report on a patient that presented in infancy with hearing loss and lymphedema. By 4 years of age the patient developed acne, disseminated warts, lymphadenopathy, and MDS, yet with increased monocyte as well as normal NK- and B-cell numbers. The patient was found to have a novel mutation in GATA2 that was predicted to disrupt the C-terminal zinc finger. Importantly, and in contrast to common concepts, GATA2-associated syndromes might present with monocytosis. Statement of novelty: We describe a novel mutation in GATA2 associated with monocytosis." @default.
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- W2051222858 date "2015-06-01" @default.
- W2051222858 modified "2023-09-26" @default.
- W2051222858 title "Monocytosis in a patient with a novel <i>GATA2</i> mutation" @default.
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- W2051222858 doi "https://doi.org/10.14785/lpsn-2014-0022" @default.
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