GATA2 deficiency

Last revised by Assoc Prof Craig Hacking on 20 Feb 2018

GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphedema. It is a rare cause of pulmonary alveolar proteinosis.

Clinical presentation

GATA2 deficiency has considerably variable clinical manifestations. It predisposes to myelodysplastic syndrome (MDS) / acute myelogenous leukemia (AML), congenital lymphedema and pulmonary alveolar proteinosis, and an immunodeficiency that renders the patient highly susceptible to viruses, especially human papillomavirus (HPV) and Epstein-Barr virus (EBV), and non-tuberculous mycobacteria.


GATA2 is a gene that codes for the transcription factor GATA2, vital for the proper functioning of hematopoietic stem cells and lymphangiogenesis (i.e. the creation of lymphatics). Heterozygous germ-line mutations are thought to arise spontaneously but are then transmitted by autosomal dominant inheritance.

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