Article
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.
The Journal of clinical investigation - 1 Oct 2012
Johnson Kirby D, Hsu Amy P, Ryu Myung-Jeom, Wang Jinyong, Gao Xin, Boyer Meghan E, Liu Yangang, Lee Youngsook, Calvo Katherine R, Keles Sunduz, Zhang Jing, Holland Steven M, Bresnick Emery H
Abstract excerpt
Haploinsufficiency for GATA2 causes human immunodeficiency syndromes characterized by mycobacterial infection, myelodysplasia, lymphedema, or aplastic anemia that progress to myeloid leukemia. GATA2 encodes a master regulator of hematopoiesis that is also linked to endothelial biology. Though the disease-causing mutations commonly occur in the GATA-2 DNA binding domain, we identified a patient with mycobacterial...
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