GATA2 Deficiency

GATA2 deficiency is caused by changes in the GATA2 gene. GATA2 is a protein that regulates other genes that are important for the blood and immune systems.  

Almost always, this abnormal gene is passed down from a parent to a child (inherited).

Our multidisciplinary team of experts will diagnose and treat your child.

• Our Immunology Clinic has over 40 years of experience diagnosing and treating children with disorders that weaken their immune systems. Our team also leads research on better ways to treat these conditions.
• At our Immunology Diagnostic Laboratory we can do complex tests offered at only a few places in the world. Results from these tests help us know how to best treat your child's disease.
• Experts in our Bone Marrow Failure Program have lots of experience caring for children and teens who cannot make enough healthy blood cells.
• Doctors from across the United States send children to our specialized Vascular Anomalies Program. Our experts treat children for swelling caused by lymphedema, which often happens with GATA2 deficiency.
• Because GATA2 deficiency is passed down from parent to child, genetic testing and counseling can help you understand your child’s condition and make family planning decisions.
• To protect your child from infection, we have a dedicated unit for children and teens with weak immune systems. Our doctors are experts in caring for patients with serious infections.
• Your child also may see Seattle Children’s doctors who specialize in treating problems this condition may cause with your child’s growth, skin, lungs or hearing.

For some children, treatment includes an infusion of young blood-forming cells from a healthy donor. This is called a stem cell transplant. Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer disorders, such as GATA2 deficiency. Our transplant team is very experienced in preparing children for transplant and helping them recover.

For details on the number of stem cell transplants we do each year and survival rates for children who receive them, see statistics and outcomes.

We work closely with Fred Hutchinson Cancer Center to perform the transplants. Fred Hutch pioneered stem cell transplants and is one of the largest stem cell transplant centers in the world.

Our specialty is treating children’s conditions while helping them grow up to be healthy and productive.

Children do not react to illness, pain and medicine in the same way as adults. They need — and deserve — care designed just for them.

The doctors who will guide your child’s care are board-certified in pediatric hematology. This means they are approved to give the special care your child needs and they constantly expand their knowledge about blood disorders. We plan your child’s treatment based on years of experience plus the newest research on what works best — and most safely — for children.

We are leaders in national and international research groups that aim to improve care and find cures for disorders that affect the blood and immune system. Our patients have access to promising new options offered only in research studies, called clinical trials.  

We do research to:

• Understand the causes of immune deficiency and bone marrow failure disorders
• Create better treatments
• Improve diagnosis and therapies for immune system disorders, through our Center for Immunity and Immunotherapies
• Reduce complications and side effects for children who need stem cell transplants

A diagnosis of GATA2 deficiency can be stressful for the whole family. We help take positive steps right away by offering appointments within 1 to 3 days to new patients with urgent needs. If needs are not urgent, new patients can be seen in 1 or 2 weeks.

During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family. Our team works with your family doctor so your child can return home as soon as possible and continue treatment.

We care for your whole child. We don’t just treat their disease. Your family has a full team behind you, with specialists in occupational therapy, physical therapy, nutrition, pain management and emotional health. Read more about the supportive care we offer.

Our child life specialists and social workers help your child and your family through the challenges of this condition. They can connect you to community resources and support groups.

At Seattle Children's, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

GATA2 deficiency is passed down from parent to child, so genetic testing and counseling can be helpful. Our genetic counselors can:

• Advise you about the pros and cons of genetic testing
• Talk with you about test results
• Give you information about your child’s condition
• Explain your chance of having a child with this condition in a future pregnancy

Testing other family members helps us learn more about the disease and improve long-term treatment.

In addition to infections and bone marrow failure, GATA2 deficiency increases the chance of health problems that may affect your child’s skin, lungs, growth, hearing or lymph system. It raises the risk of acute myeloid leukemia and a pre-leukemia condition called MDS.

Your child will have check-ups every 6 months or more often. We check:

• Any symptoms, such as problems with breathing, hearing or skin
• The level of different blood cells
• Frequency and types of infections
• Growth
• Limb swelling

Doctors may also check:

• Bone marrow for signs of bone marrow failure or leukemia. Bone marrow failure means the soft center part of the bones does not make enough healthy blood cells.
• How well their lungs work (pulmonary function tests). We start when your child is old enough to cooperate (usually 6 to 10 years). If there are problems, your child will get care from a lung specialist.
• For skin problems like warts. A skin doctor (dermatologist) will see your child if they have problems.
• Thyroid hormone levels if your child is not growing as expected. They will see an endocrinologist, if needed.
• How well they hear. The specialist who checks your child’s hearing is called an audiologist.

Your child will need to take antibiotics by mouth to prevent serious infections caused by bacteria, such as pneumonia. 

We will talk with you about signs to watch for. Fever (over 38.5° C or 101.3° F) is a sign of infection and needs attention right away. We will give you guidelines about what to do if your child gets a fever.

If your child gets an infection, they may need to stay in the hospital until we are sure their infection is controlled. Most often, we will give antibiotics into your child’s vein using a tube, called an IV (intravenous) line.

Lymphedema is swelling that happens when fluid called lymph builds up in part of the body. It most often affects an arm or leg. Lymph is a thick fluid that carries infection-fighting cells, proteins and waste.

Lymphedema happens if GATA2 deficiency causes problems in the network of small tubes that pick up lymph from all around the body.

Our Vascular Anomalies Program is very experienced in managing lymphedema.  Read more about lymphedema and how we treat it.

For some children with GATA2 deficiency, treatment includes a transplant of blood-forming stem cells from a healthy person. This is called a stem cell transplant, bone marrow transplant or hematopoietic (him-at-oh-poy-EH-tik) cell transplant.

This treatment replaces the faulty blood and immune cells with healthy ones. With normal levels of healthy infection-fighting blood cells, a child is no longer at risk for severe infections and skin problems like warts. A transplant also lowers the risk of a pre-leukemic illness called myelodysplastic syndrome, which is higher in kids with GATA2 deficiency.

A transplant only improves conditions related to the blood or immune system. A transplant would not help with other problems GATA2 deficiency can cause, such as lymphedema, hearing loss and underactive thyroid.

Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer disorders. Some children with GATA2 deficiency are too sick to withstand the strong medicines and radiation (called conditioning) that often are used to prepare for the transplant. Our team has developed better ways to prepare a child’s body, called reduced-intensity conditioning. We keep improving the conditioning treatments to increase survival and reduce complications.

We perform the transplants here at Seattle Children’s, working closely with our partner Fred Hutch.