"GATA2 Deficiency" – What Is It?

GATA2 deficiency includes several diseases based on mutations, i.e., 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), lymphedema, and hearing loss), predisposition to MDS, and predisposition to acute myeloid leukemia (AML).

Overview of the Chapters on This Page:

  • What Is the Risk of Cancer?
  • What Is Known About the Development of "GATA2 Deficiency"
  • Is There Any Treatment Available?
  • Medical Measures for Early Detection
  • GATA2 Deficiency – What You Can Do Yourself
  • Links and Further Information (e.g., From Support Groups)
  • What Is the Risk of Cancer?
  • Is There Any Form of Treatment Available?
  • Medical Measures for Early Detection
  • GATA2 Deficiency – What You Can Do Yourself
  • Links (e.g., From Support Groups) and Further Information

How Is "GATA2 Deficiency" Diagnosed?

People Suspected of Having a GATA2 Mutation

  • People who develop MDS or AML at a young age
  • People with MDS/AML who have family members who also have MDS or AML
  • People with MDS/AML who also have monosomy 7/trisomy 8
  • People with MDS/AML who also have lymphoedema or hearing loss
  • People with MDS/AML who also have gestalt abnormalities

Genetic Diagnostics

The diagnosis of “GATA2 deficiency” is confirmed by the detection of a mutation, i.e., a genetic change in the GATA2 gene.

What Is the Risk of Cancer?

The risk of developing MDS or AML is around 70%. If diseases of the blood and immune systems are taken together, 90% of all mutation carriers will develop at least one manifestation by the age of 60.

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

In addition to cancer, a GATA2 mutation can lead to immune system diseases, as the body lacks critical immune cells. These manifest in sometimes severe infections caused by bacteria, viruses, or fungi and can affect various organs.

The following clinical and genetic abnormalities may also occur:

  • Lymphoedema (accumulation of fluid in intercellular spaces) on the arms, legs or hydrocele testis (accumulation of water around the testicles)
  • Hearing loss
  • Behavioral problems, autism, ADHD
  • Hypothyroidism, malformation of the urinary or genital tract, unilateral or bilateral drooping of the eyelid, hydrops fetalis (generalized accumulation of fluid that extends over large parts of the body of an unborn child)
  • Distinctive features: Small eye distance, epicanthal fold (sickle-shaped fold of skin on the inner corner of the eye), long and pointed fingers, wing fur on the neck
  • Genetic: monosomy 7, trisomy 8, acquired ASXL1 mutation

What Is Known About the Development of "GATA2 Deficiency"?

GATA2 deficiency is caused by a mutation, i.e. a genetic change in the GATA2 gene. This gene codes for the protein GATA2, a so-called transcription factor that plays a vital role in developing blood and immune cells. If the GATA2 gene is in an altered form, the transcription factor can no longer function correctly or at all, leading to leukemia or infections.

GATA2 deficiency can be passed on from parents to their children. The inheritance is autosomal dominant.

Is There Any Form of Treatment Available?

Due to the wide-ranging clinical picture, patients with GATA2 mutations should be treated by a multidisciplinary team.

Chemotherapy, which is normally used for patients with AML, should be avoided in patients with a GATA2 mutation, as these patients often also have an immune system disease. Early stem cell transplantation can, therefore, be considered for high-risk patients. This should be carried out before the onset of serious complications.

As there is an increased risk of HPV infections, HPV vaccination may be considered.

Diagnosis of " GATA2 Deficiency" What's Next?

Once diagnosed, it is recommended that the patient be managed by a cancer predisposition specialist. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. There is also some additional information at the end of this page, including links to support groups.

Diagnosis of " GATA2 Deficiency" What's Next?

Once diagnosed, it is recommended that the patient be managed by a cancer predisposition specialist. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. There is also some additional information at the end of this page, including links to support groups.

Medical Measures for Early Detection

Check Ups (At Least Annually)

  • Clinical examination
  • Complete blood count
  • Bone marrow puncture

GATA2 Deficiency- What You Can Do Yourself

You Should Pay Attention to This

You should consult a doctor as soon as increased or severe infections occur. You should also see a doctor urgently if you experience bleeding or increased bruising, fatigue or a feeling of illness, fever, night sweats, paleness, or swelling of the lymph nodes. Other reasons for a visit to the doctor include swelling of the arms, legs or testicles and behavioral abnormalities. If other new abnormalities or complaints occur, these should also be clarified as quickly as possible.

Further Information

Unfortunately, we are unaware of any support groups for patients with GATA2 deficiency. As soon as we have new information, we will add it here. However, patients can register for the CPS registry at any time or have this done by their doctors attending.

Any further questions?

You can reach us by e-mail and telephone, or you can come to our consultation hours in person. For more information, please visit our contact page.