Monocytosis in a patient with a novel GATA2 mutation
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.
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Published In
LymphoSign Journal
Volume 2 • Number 2 • June 2015
Pages: 85 - 90
History
Received: 9 October 2014
Accepted: 11 December 2014
Accepted manuscript online: 11 December 2014
Version of record online: 11 December 2014
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Michaela Cada, Irene Lara-Corrales, Yigal Dror, Stephen Feanny, Vy Hong-Diep Kim, and Eyal Grunebaum. 2015. Monocytosis in a patient with a novel GATA2 mutation. LymphoSign Journal.
2(2): 85-90. https://doi.org/10.14785/lpsn-2014-0022
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