What is GATA2 deficiency?

GATA2 deficiency includes multiple diseases caused by mutations – or genetic changes – in the GATA2 gene: immunodeficiency 21 (MonoMAC, a disease with severe bacterial, viral, or fungal infections), Emberger syndrome (a combination of myelodysplastic syndrome (MDS, a disease of the bone marrow), lymphedemas, and impaired hearing), a predisposition to MDS, and a predisposition to acute myeloid leukemia (AML).

How is GATA2 deficiency diagnosed?

People suspected of having a GATA2 mutation

  • People who develop MDS or AML are young

  • People with MDS/AML who have family members who also suffer from MDS or AML

  • People with MDS/AML who also exhibit monosomy 7 / trisomy 8.

  • People with MDS/AML who also exhibit a lymphedema or a hearing impairment.

  • People with MDS/AML who also have physical anomalies.

Genetic Diagnostics

The diagnosis of “GATA2 deficiency” is confirmed by detection of a mutation – or genetic change – in the GATA2 gene.

What is the risk of cancer?

The risk of developing MDS or another form of AML is around 70%. If diseases of the blood system and immune system are lumped together, it can be said that 90% of all mutation carriers will suffer from at least one manifestation by the age of 60.

The average age when MDS or AML manifests is 20 years, with an age range of 12 to 35 years.

In addition to malignant diseases, a GATA2 mutation can also bring about diseases of the immune system, since the body is lacking important immune cells, resulting in bacterial, viral, or fungal infections, some of them severe, which can affect different organs.

Moreover, the following clinical and genetic anomalies may occur:

  • Lymphedemas (accumulation of fluids in intercellular spaces) in the arms, legs, or as hydrocele testis (accumulation of water around the testicles)

  • Impaired hearing

  • Behavioral disorders, autism, ADHD

  • Hypothyroidism, malformation of the urinary or genital tract, drooping eyelid on one or both sides, hydrops fetalis (generalized accumulation of fluid extending over many parts of the body in an unborn child)

  • Physical anomalies: small distance between the eyes, epicanthal fold (crescent skin fold on the inner contact angle of the eye), long and tapered fingers, webbed skin on the neck

  • Genetic: monosomy 7, trisomy 8, acquired ASXL1 mutation

What causes GATA2 deficiency?

GATA2 deficiency is caused by a mutation – or genetic change – in the GATA2 gene. This gene encodes for the GATA2 protein, called a transcription factor, which plays an important role in the development of blood and immune cells. Now if the GATA2 gene is altered, the transcription factor can no longer function properly (or even at all) either, resulting in the development of leukemia or infections.

GATA2 deficiency can be passed on by parents to their children. In these cases, it is inherited as an autosomal dominant disease.

Is there a treatment?

Due to the widely varied clinical presentation, patients with a GATA2 mutation should be treated by a multidisciplinary team.

Chemotherapy, usually used in patients with AML, should be avoided when there is a GATA2 mutation, as such patients frequently suffer from a disease of the immune system as well. For this reason, it may be worth considering early stem cell transplants for high-risk patients. This should be performed before the onset of severe complications.

Since there is a risk of HPV infections, an HPV vaccination may be worth considering.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

At least annually

  • Clinical examination

  • Complete blood count

  • Bone marrow puncture

Self-Care and Support

What should I pay special attention to?

You should see a doctor as soon as multiple or severe infections occur. In addition, you should go to a doctor immediately if you experience bleeding or increased bruising, fatigue, if you feel sick, have a fever, experience night sweats, if you are pale, or have swollen lymph nodes. Other reasons to consult a doctor include swelling of the arms, legs, or testicles and behavioral anomalies. If you develop new anomalies or complaints, they should likewise be evaluated as soon as possible.

Support Groups and Additional Information

Unfortunately, we are as yet unaware of any existing support groups for patients with GATA2 deficiency. We will add new information as it becomes available.