Gata2 haploinsufficiency
WebThe molecular defects in the +9.5 +/– embryos suggests that the human GATA2 haploinsufficiency dysregulates the GATA-2–dependent genetic network in definitive hematopoietic precursors. These results highlight how a cis-element confers expression of a cell type–specific gene in a subset of its target cell types in vivo. WebNov 26, 2024 · Moreover, Gata2 haploinsufficiency reduces the function of granulocyte-macrophage progenitors but not of other myeloid committed progenitors (Rodrigues et al., 2008). However, Gata2 +/− mice do not develop MDS/AML. This makes it difficult to study the contribution of GATA2 haploinsufficiency to leukemic progression in these models.
Gata2 haploinsufficiency
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WebGATA2 Deficiency. Haploinsufficiency of the hematopoietic transcription factor GATA2 leads to a wide spectrum of diseases including primary immunodeficiency syndromes such as dendritic cell, ... Haploinsufficiency of RPS14 was shown to result in anemia via both p53-dependent and p53-independent mechanisms (Nakhoul et al., 2014).
WebThe frameshift and splice acceptor mutations were expected to result in complete loss of the C-terminal zinc finger domain and to cause DCML through haploinsufficiency of GATA2. Johnson et al. (2012) identified a woman of European descent who developed a constellation of conditions characteristic of IMD21 by the age of 27 years. The patient ... WebJul 6, 2024 · GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Hsu AP Blood 2013 PMID: 23502222: Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
WebMay 9, 2013 · GATA2 deficiency is characterized by monocytopenia; B, natural killer (NK), and dendritic cell lymphopenia; and mycobacterial, fungal, and viral infection. 1,- 3 It has been called both MonoMAC, for monocytopenia and Mycobacterium avium complex, and DCML deficiency, for dendritic cell, monocyte, B and NK lymphoid deficiency. WebJan 8, 2024 · Purpose. Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases …
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WebDisease Overview. GATA2 deficiency is a rare genetic disease that can present as several distinct syndromes: dendritic cell, monocyte, B, and natural killer lymphoid deficiency (monocytopenia and mycobacterial infection syndrome); familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); deafness-lymphedema-leukemia syndrome ... flex termoWebJun 2, 2024 · GATA2 deficiency is a recently described primary immune deficiency that affects hematopoiesis, lymphatics, and immunity and is transmitted as an autosomal dominant or sporadic disease. … chelsea williamsWebOct 3, 2024 · GATA2 haploinsufficiency causes an immune disorder that is characterized by bone marrow failure and (near) absence of monocytes, dendritic cells, B cells and natural killer (NK) cells. T cells develop … chelsea williams singerWebChildren with GATA2 deficiency are born with a genetic change (mutation) that affects how their blood and immune systems develop. They have a greater chance of serious infection and other health problems. These include: Bone marrow failure Blood cancer Fluid in the lungs Swelling (lymphedema) Warts Unusual infections Hearing loss chelsea williamson redding caWebJun 13, 2024 · GATA2 deficiency is a disease with a broad spectrum of clinical presentation, ranging from lymphedema, deafness, pulmonary dysfunction to miscarriage and urogenital anomalies, but it is mainly recognized as an immune system and bone marrow disorder. It is caused by various heterozygous mutations in the GATA2 gene, encoding for a zinc … flexterra spec sheetWebNational Center for Biotechnology Information chelsea williams vcuWebIn mice, Gata2 haploinsufficiency (Gata2+/-) reduces the number and the functionality of embryonic hematopoietic stem and… Mehr anzeigen The first hematopoietic stem cells (HSCs) are formed through endothelial-to-hematopoietic transition (EHT) events during embryonic development. The transcription factor GATA2 is a crucial regulator of EHT ... flexterra flexible growth medium