Can somatic GATA2 mutation mimic germ line GATA2 mutation?
نویسندگان
چکیده
منابع مشابه
The evolution of cellular deficiency in GATA2 mutation.
Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and acute myeloid leukemia. In this study, we describe a cross-sectional analysis of 24 patients and 6 relatives with 14 different frameshift or substitution mutations of GATA2. A pattern of dendritic cell, monocyte, B, and natural killer (NK) lymphoid defic...
متن کاملHaematopoietic and immune defects associated with GATA2 mutation
Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity, lymphoedema and malignancy. Although often healthy in childhood, carriers of defective GATA2 alleles develop progressive loss of mononuclear cells (dendritic cells, monocytes, B and Natural Killer lymphocytes), elevated FLT3 ligand, and ...
متن کاملGerm-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in RUNX1 or CEBPA. Recently, novel germline mutations in GATA2 have been reported. We, therefore, investigated individuals from families with one or more first-degree relativ...
متن کاملFirst Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation
Copyright © 2016 The Korean Association of Internal Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/ by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited. pISSN 1226-3303 eISSN 2005-664...
متن کاملMonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature.
We report a case of MonoMAC syndrome in a patient with a GATA2 mutation and discuss the manifestations, diagnosis, and treatment of this novel immunodeficiency disorder.
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ژورنال
عنوان ژورنال: Blood Advances
سال: 2018
ISSN: 2473-9529,2473-9537
DOI: 10.1182/bloodadvances.2017012617