GATA2 Deficiency and Related Myeloid Neoplasms

The GATA2 gene codes for a hematopoietic transcription factor that through its two zinc fingers (ZF) can occupy GATA-DNA-motifs in a countless number of genes. It is crucial for the proliferation and maintenance of hematopoietic stem cells. During the past five years, germline heterozygous mutations in GATA2 were reported in several hundred patients with various phenotypes ranging from mild cytopenia to severe immunodeficiency involving B, NK, CD4+ cells, monocytes and dendritic cells (MonoMAC/DCML), and myeloid neoplasia.
Source: Seminars in Hematology - Category: Hematology Authors: Source Type: research