GATA2 Deficiency

GATA2 deficiency is a genetic disease that can manifest as five distinct syndromes: monocytopenia and mycobacterial infection syndrome; dendritic cell, monocyte, B, and natural killer lymphoid deficiency; familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); Emberger syndrome; or natural killer (NK) cell deficiency.

Why Is the Study of GATA2 Deficiency a Priority for NIAID?

GATA2 deficiency is a rare genetic disease that may be chronic, debilitating, and costly. By learning more about this disease and its effects on the body, scientists gain a greater understanding of immune function that can inform multiple areas of research.

How Is NIAID Addressing This Critical Topic?

NIAID supports research into the genetic origins and physical manifestations of GATA2 deficiency to build on the scientific knowledge of this rare disease and others like it.

GATA2 deficiency is a primary immune deficiency disease (PIDD). For more information on PIDD research and patient care at NIAID, visit the NIAID PIDD site

Blood sample containing immune cells, including lymphocytes and monocytes.
Credit: National Cancer Institute
Blood sample containing immune cells, including lymphocytes and monocytes. Mutations in the GATA2 gene can disrupt many aspects of the immune system

GATA2, a protein that controls when certain genes are “turned on,” orchestrates the activity of many types of cells, including immune cells. When GATA2 function is disrupted by mutations in the GATA2 gene, GATA2 deficiency occurs and can be passed down in an autosomal dominant manner.

Symptoms & Diagnosis

GATA2 deficiency has a wide variety of symptoms including severe infections, respiratory problems, hearing loss, leg swelling, and cancer that can appear early in childhood but also later on in life. If a physician suspects GATA2 deficiency, testing for mutations in the GATA2 gene can confirm the diagnosis.


Treatments prescribed for GATA2 deficiency will depend on the symptoms a patient experiences . Clinicians may recommend bone marrow transplantation, which replaces defective immune cells with those of a healthy donor.

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Content last reviewed on June 24, 2016