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GATA2 is a protein that regulates the expression of genes involved in blood, lymph, and other stem cell development. Mutations in the GATA2 gene can cause various disorders, such as GATA2 deficiency, leukemia, and prostate cancer.
GATA2 deficiency is caused by mutations in the GATA2 gene, which regulates blood cell differentiation. It can cause immunodeficiency, myelodysplastic syndrome, lung disease, and vascular/lymphatic problems.
GATA2 is a transcription factor that regulates hematopoietic and endocrine cell development and proliferation. Learn about its aliases, disorders, pathways, products, expression, function, localization, and more from GeneCards database.
The GATA2 gene mutation is the main cause of GATA2 deficiency. GATA-2 is a transcription factor that is encoded by the GATA2 gene, which is found on chromosome 3. The growth and operation of hematopoietic stem cells, which create different blood cells such as red blood cells, white blood cells, and platelets, are greatly influenced by this ...
GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental GATA2 genes.Being the gene haploinsufficient, mutations that cause a reduction in the cellular levels of the gene's product, GATA2, are autosomal dominant.The GATA2 protein is a transcription factor critical for the embryonic development ...
GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing to a range of symptoms, of which myeloid malignancy and immunodeficiency including recurrent infections are most common. In the last decade since it was first reported, there have been over 480 individuals ide …
The natural history of GATA2 deficiency is highly variable, even in individuals within the same family who harbor the identical mutation in the GATA2 gene. Individuals who become symptomatic with GATA2 deficiency, typically present in their late teens or early twenties, and ultimately succumb to either disseminated infections, MDS, or AML within 2 to 20 years.
GATA2 deficiency can be caused by silent mutations, mandating their inclusion into standard diagnostic tools for individuals with GATA2 deficiency phenotype. B- and NK-cell lymphopenia, with or without hypogammaglobulinemia, is common in GATA2 deficiency and evaluation of lymphocyte subset distribution in PB is a helpful diagnostic tool.
GATA2 deficiency is a genetic disorder caused by loss-of-function variants in the GATA2 gene, which affects hematopoiesis and immunity. It can lead to cytopenias, infections, MDS, AML, and other complications. Learn about the genetics, molecular biology, clinical phenotypes, and management of GATA2 deficiency.
Clinical features of GATA2 deficiency. According to 2019 Update of the IUIS Phenotypical Classification, GATA2 deficiency is classified among congenital defects of phagocyte, underscoring the role of monocytopenia as a key feature ().Lack of monocytes results in characteristic susceptibility to non-tuberculous mycobacterial infection, via disruption of IFNγ-IL12 axis that plays a crucial role ...