GATA2 deficiency is a rare disorder that was identified in 2011. Someone with GATA2 deficiency can experience a wide range of symptoms, from the immune system not working properly to heart, lung, and blood cell problems. GATA2 deficiency occurs when there is a change, or mutation, in one of the two GATA2 genes in a child. GATA2 is a certain type of gene known as a transcription factor, meaning that it regulates the activity of other genes. GATA2 specifically regulates the genes that tell blood cells what type of blood cell they’re going to be once they mature.
Blood cells can mature into red blood cells, white blood cells, and more specific classes of white blood cells – the cells that help out the immune system- like B cells and T cells. Blood cells have more trouble maturing and taking on specific jobs in the body when only one GATA2 gene is functioning normally, and this can lead to a lot of health problems. GATA2 and the complications that can come with it are most effectively managed if the disorder is diagnosed at a young age.
GATA2 deficiency has a wide variety of symptoms, and every case is going to look different. Additionally, people with GATA2 deficiency will begin to show symptoms over time. They are typically not present when a baby is born. Many people with GATA2 start to see symptoms by the time they’ve turned 20, although some have not. It’s rare for those with GATA2 to reach 60 without showing any symptoms. What age a GATA2 deficient person starts showing symptoms will vary case by case.
Those symptoms include:
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
GATA2 is caused by a change, or mutation, in one of the two GATA2 genes a child has. Children inherit two copies of every gene, one from the mother and one from the father. Two functional GATA2 genes are needed for blood cells to mature normally and people with GATA2 deficiency only have one. The mutation is most often inherited, but it can arise spontaneously.
Risk factors for GATA2 deficiency include having a parent with GATA2 deficiency. If one parent has GATA2 deficiency, there is a 50% chance they will pass it on to any child.
Making the diagnosis of GATA2 deficiency can be challenging because the symptoms of GATA2 deficiency are so different from patient to patient and they can be signs of many other diseases. If your doctor suspects GATA2 deficiency after a physical exam and a medical history, they will run blood tests to check for abnormal levels of different types of blood cells, check lung function, check hearing, do genetic testing on the child and the parents, and take a bone marrow biopsy – the bone marrow is where blood cells mature before they get sent out into the body. These tests will help your doctor make a definitive diagnosis.
Complications of GATA2 deficiency include:
Treatment for GATA2 deficiency is targeted to the symptoms the patient is experiencing. These can include medication to manage symptoms and infections or even preventative antibiotics. The best long-term treatment option for many people is a bone marrow transplant, although a bone marrow transplant is not without risks that you can discuss with your doctor.