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GATA2 deficiency
Etiology:
- haploinsufficiency of the hematopoietic transcription factor GATA2
Epidemiology:
- congenital or adult-onset
Pathology:
- monocytopenia
- mycobacterial infections
- dendritic cell, monocyte, B, & natural killer deficiency
- familial myelodysplastic syndrome &/or acute myeloid leukemia
- Emberger syndrome
Related
GATA binding factor-2; endothelial transcription factor GATA-2 (GATA2)
General
cellular immune dysfunction
References
- Spinner MA, Sanchez LA, Hsu AP et al
GATA2 deficiency: a protean disorder of hematopoiesis,
lymphatics, and immunity.
Blood. 2014 Feb 6;123(6):809-21
PMID: 24227816