In:
LymphoSign Journal, LymphoSign Journal Limited Partnership, Vol. 2, No. 2 ( 2015-06-01), p. 85-90
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.
Type of Medium:
Online Resource
ISSN:
2292-5937
,
2292-5945
DOI:
10.14785/lpsn-2014-0022
Language:
English
Publisher:
LymphoSign Journal Limited Partnership
Publication Date:
2015
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