Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

By A. Hsu, E. Sampaio, J. Khan, K. Calvo, J. Lemieux, Smita Y. Patel, D. M. Frucht, D. Vinh, Roger D. Auth, A. Freeman and 15 more. Blood, 2011

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A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia. (2014, background): “…domains or in GATA2 regulatory sequences represents a well-established underlying cause of MDS/AML and Emberger/MonoMAC syndromes (Hahn et al., 2011; Hsu et al., 2013; Hsu et al., 2011; Ostergaard et al., 2011; Rodrigues (F) Immunophenotyping of control and enhancer-targeted MUTZ-3 cells.”
A Lineage of Myeloid Cells Independent of Myb and Hematopoietic Stem Cells (2012, methodology): “For the skin, ears were collected and epidermal single-cell preparations were obtained as described previously (10).”
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. (2014, methodology): “The genetic lesions in GATA2 are also heterogeneous, clustering into three different groups: missense mutations and in-frame deletions involving the C-terminal zinc finger; nonsense mutations, frameshifts, and large gene deletions predicted to result in null alleles; and regulatory mutations within ”