GATA2 Deficiency

What is GATA2 deficiency?

Children with GATA2 deficiency are born with a genetic change (mutation) that affects how their blood and immune systems develop. They have a greater chance of serious infection and other health problems. These include: 

  • Bone marrow failure
  • Blood cancer
  • Fluid in the lungs
  • Swelling (lymphedema)
  • Hearing loss 

The condition is also called GATA2 haploinsufficiency.

Children with this condition can have healthy, active lives. But they need care from doctors who specialize in disorders affecting the blood and bone marrow (hematologists) and immune system (immunologists). They also need a team that can treat other health problems GATA2 deficiency may cause. At Seattle Children’s, many different healthcare providers form a team to care for your child.

  • 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.

    Children with the condition may have inherited this abnormal gene from a parent.

GATA2 Deficiency at Seattle Children’s

USNWR BadgeChildren and teens with GATA2 deficiency get care from experts from many areas at Seattle Children’s. These include our: 

Your child also may see Seattle Children’s doctors who specialize in treating infectious diseases or other problems this condition may cause related to your child’s growthskinlungs or hearing.

Our experience helps us know what to watch for and how to prevent and treat problems early. This increases the chances of successful treatment and helps your child feel better. Your child may need medicines, blood transfusions, a stem cell transplant or other care.

Please contact the Cancer and Blood Disorders Center at 206-987-2106 for more information, a second opinion or to make an appointment. We will coordinate your child’s care so they see the specialists they need.

    • Our Immunology Clinic has over 40 years of experience diagnosing and treating children with conditions 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 can not make enough healthy blood cells.
    • U.S. News & World Report consistently ranks our cancer center among the best in the country. GATA2 deficiency increases the chance of developing blood cancers.
    • Doctors from across the United States send children here for treatment at 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.
  • 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 conditions, including GATA2 deficiency. Our transplant team is very experienced 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 Hutch, our partner in the Seattle Cancer Care Alliance (SCCA), to perform the transplants. More than 30 years ago, Fred Hutch pioneered stem cell transplants to treat blood disorders.

  • We are leaders in national and international research groups that aim to improve care and find cures for conditions that affect the blood and immune system.

    We do research to: 

    • Understand the causes of immune deficiency and bone marrow failure disorders
    • Develop 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 

    Our patients have access to promising new options offered only in research studies, called clinical trials. We are studying better ways to prepare children for stem cell transplant and avoid complications afterward.

    Learn more about blood disorder and stem cell transplant research at Seattle Children’s.

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

    Children don’t react to illness, injury, pain and medicine in the same way as adults. They need – and deserve – care designed just for them.

    Our doctors have special training in how to diagnose and care for children with conditions that affect the blood and immune system. The doctors who guide your child’s care are specialists in the treatments your child needs, and they constantly expand their knowledge about these diseases.

    They base their treatment plans on years of experience and the newest research on what works best – and most safely – for children.

  • A diagnosis of GATA2 deficiency can be stressful. 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, including 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. We 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.

Symptoms of GATA2 Deficiency

GATA2 deficiency can cause a wide variety of symptoms. Some symptoms may be more likely as children get older. These same symptoms can also result from other health problems. Check with a doctor if your child has any of these: 

  • Severe, repeated infections
  • Unusual infections, such as infection of the brain or blood
  • Low white blood cells
  • Abnormal numbers of warts
  • Limb swelling (caused by blockages in the lymph system, called lymphedema)
  • Trouble breathing (due to abnormal fluid in the lungs)
  • Hearing loss
  • Slow growth (because of low levels of thyroid hormone, called hypothyroidism) 

GATA2 deficiency increases the chance of cancer, especially acute myeloid leukemia and myelodysplastic syndrome (MDS), a pre-leukemia condition.

Diagnosing GATA2 Deficiency

Seattle Children’s specialists in the blood and immune systems are experienced diagnosing GATA2 deficiency. This can be difficult because the disorder may cause different symptoms in different children. Making the diagnosis early can help doctors manage the disease. To diagnose your child, our team will do 1 or more of the following: 

  • Ask about the health of your child and family members.
  • Check your child for signs of infection.
  • Draw blood to check the levels of each type of blood cell. This is called complete blood count with differential (CBCD).
  • Draw blood to check the numbers of immune cells and their function.
  • Draw blood to measure hormone levels.
  • Test how their lungs work.
  • Check your child’s hearing.
  • Do genetic tests to check for changes linked to GATA2 deficiency and to rule out other conditions.
  • Get a sample of bone marrow. This helps us understand the reason for your child’s marrow failure. The test is called bone marrow aspiration or biopsy

After the lab results come in, your child’s care team will talk with you about the treatment plan.

  • 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. They explain test results and your chance of having a child with this condition in a future pregnancy.

    Our genetic counselor also will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

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

Treating GATA2 Deficiency

Your child’s care plan depends on their illness. We watch your child closely and recommend the best treatments for them. At Seattle Children’s we offer these options:

  • 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 myelodysplastic syndrome (MDS), a pre-leukemia condition.

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

    • Any symptoms, including 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. In a healthy child, the bone marrow makes white blood cells, red blood cells and platelets.
    • 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 warts and other skin problems. 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

    Keeping track of their health in this way helps ensure your child gets the care they need before more serious problems develop. That gives them the best chance of successful treatment.

  • 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, such as fever (over 38.50 C or 101.30 F). Because infection is such a concern, it needs attention right away. We give guidelines about what to do.

    If your child gets an infection, they may need to stay in the hospital until we are sure their infection is controlled. Usually, 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 usually 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.

    We have a Vascular Anomalies Program that 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 (stem cell transplant). It is also called a bone marrow transplant or hematopoietic cell transplant. Hematopoietic (him-at-oh-poy-EH-tik) stem cells are young cells that grow into blood cells.

    This treatment replaces your child’s defective 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 conditions like warts.

    A transplant also lowers the risk of a pre-leukemic condition called myelodysplastic syndrome, which is higher in kids with GATA2 deficiency. A transplant would not improve conditions that are not related to the blood or immune system. GATA2 deficiency can cause problems affecting the lymph system, hearing and thyroid. The transplant would not help with these.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions. Some children with GATA2 deficiency are too sick to tolerate the powerful drugs or radiation (called conditioning) that are usually used to prepare their bodies for the transplant. Our team – led by Dr. Lauri Burroughs – has developed better ways to prepare them, called reduced-intensity conditioning. We continue to fine-tune conditioning treatments to improve survival and reduce complications.

    We perform the transplants here at Seattle Children’s, working closely with our partner in the Seattle Cancer Care Alliance, Fred Hutch. Fred Hutch pioneered this lifesaving procedure and is one of the largest stem cell transplant centers in the world.

Contact Us 

If you would like an appointment, ask your child’s primary care provider for a referral.

If you have a referral or would like a second opinion, call the Cancer and Blood Disorders Center at 206-987-2106.

Providers, see how to refer a patient.