GATA2 deficiency

Disease Overview

GATA2 deficiency is a rare genetic disease that can present as several distinct syndromes: dendritic cell, monocyte, B, and natural killer lymphoid deficiency (monocytopenia and mycobacterial infection syndrome); familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); deafness-lymphedema-leukemia syndrome (Emberger syndrome); or natural killer (NK) cell deficiency.[13829] Symptoms are varied and include severe infections (most commonly viral or nontuberculous mycobacterial infections), respiratory problems, hearing loss, leg swelling, and cancer that can appear early in childhood but also later on in life (such as myelodysplasia, acute myeloid leukemia (AML) or chronic myelomonocytic leukemia).[13829][13830]  It is caused by mutations in the GATA2 gene, which provides instructions to produce GATA2, a protein that controls when certain genes are “turned on,” and directs the activity of many types of cells, including immune cells. Mutations in the GATA2 gene result in impaired GATA2 protein function leading to GATA2 deficiency. Inheritance is autosomal dominant.[13829] Treatment depends on the symptoms and may include vaccination, antibiotics, and bone marrow transplant.[13830]