High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2021.04.002
Abstract: Pathogenic germ-line variants in GATA2 (GATA2-deficiency) can cause childhood myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), and can be associated with distinct clinical syndromic features. However, penetrance and genotype-phenotype correlations are incompletely understood. Here… read more here.
Keywords: deficiency; features three; gata2 deficiency; myeloid ... See more keywords
Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Leukemia"
DOI: 10.1038/s41375-020-0820-2
Abstract: GATA2 deficiency syndrome is an autosomal dominant disorder caused by germline mutations in the GATA2 gene, which encodes a transcription factor with two zinc fingers that is essential for hematopoiesis. There are four classes of… read more here.
Keywords: zinc fingers; gata2 deficiency; gata2; mutation ... See more keywords
Interferon regulatory factor-8-dependent innate immune alarm senses GATA2 deficiency to alter hematopoietic differentiation and function
Sign Up to like & getrecommendations! Published in 2023 at "Current Opinion in Hematology"
DOI: 10.1097/moh.0000000000000763
Abstract: Purpose of review Recent discoveries have provided evidence for mechanistic links between the master regulator of hematopoiesis GATA2 and the key component of interferon and innate immunity signaling pathways, interferon-regulatory factor-8 (IRF8). These links have… read more here.
Keywords: gata2 deficiency; factor; differentiation; interferon ... See more keywords
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000000737
Abstract: Patients with GATA2 (Emberger syndrome) deficiency needs early hematopoietic stem cell transplant (HSCT) before evolving in to myelodysplastic syndrome or acute myeloid leukemia and with time given compromised organ dysfunction leads to increase regimen-related toxicities.… read more here.
Keywords: matched unrelated; donor; emberger syndrome; hematopoietic stem ... See more keywords
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18330
Abstract: The importance of predisposition to leukaemia in clinical practice is being increasingly recognized. This is emphasized by the establishment of a novel WHO disease category in 2016 called “myeloid neoplasms with germline predisposition”. A major… read more here.
Keywords: mds; deficiency mds; gata2 deficiency; aml experimental ... See more keywords
The Spectrum of GATA2 Deficiency Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Blood"
DOI: 10.1182/blood.2022017764
Abstract: Inherited or de novo germline heterozygous mutations in the gene encoding the transcription factor GATA2 lead to its deficiency; this results in a constellation of clinical features including infections with non-tuberculous mycobacterial, bacterial, fungal, and… read more here.
Keywords: deficiency syndrome; deficiency; spectrum gata2; gata2 deficiency ... See more keywords
GATA2 in Bone Marrow Failure
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DOI: 10.1182/blood.v130.suppl_1.sci-23.sci-23
Abstract: Abstract The syndrome now known as GATA2 haploinsufficiency had been published at least since the 1970s under different clinical guises. With the identification of the gene in 2011, GATA2 deficiency became the overarching diagnosis for… read more here.
Keywords: gata2; gata2 deficiency; bone marrow;
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
Sign Up to like & getrecommendations! Published in 2020 at "Blood advances"
DOI: 10.1182/bloodadvances.2019001352
Abstract: Constitutional GATA2 deficiency caused by heterozygous germline GATA2 mutations has a broad spectrum of clinical phenotypes, including systemic infections, lymphedema, cytopenias, and myeloid neoplasms. Genotype-phenotype correlation is not well understood mechanistically in GATA2 deficiency. We… read more here.
Keywords: hematopoiesis; expression; gata2 deficiency; gene ... See more keywords
ASXL1 and STAG2 are Common Mutations in GATA2 Deficiency Patients with Bone Marrow Disease and Myelodysplastic Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Blood advances"
DOI: 10.1182/bloodadvances.2021005065
Abstract: GATA2 Deficiency patients harbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family members with the same… read more here.
Keywords: deficiency patients; mutations gata2; disease; somatic mutations ... See more keywords
GATA2 deficiency elevates interferon regulatory factor-8 to subvert a progenitor cell differentiation program
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006182
Abstract: Key Points Elevated IRF8 in granulocyte-monocyte progenitors from Gata2 −77 enhancer mutant embryos cause macrophage-biased differentiation. Genetically ablating Irf8 reverses fetal liver hematopoiesis defects of Gata2 enhancer mutant embryos, thus establishing a GATA2-IRF8 axis. read more here.
Keywords: elevates interferon; gata2 deficiency; interferon regulatory; differentiation ... See more keywords
Diagnosis of GATA2 haplo-insufficiency in a young woman prompted by pancytopenia with deficiencies of B-cell and dendritic cell development
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DOI: 10.1186/s40364-018-0127-x
Abstract: BackgroundGATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficiency, but is… read more here.
Keywords: diagnosis gata2; deficiency; gata2; gata2 haplo ... See more keywords