GATA2 Deficiency

Also known as

  • MonoMAC
  • IMD21
  • Emberger Syndrome
  • DCML Deficiency

GATA2 deficiency is a germline disease which can cause a variety of phenotypes including viral and bacterial infections, cytopenias, myelodysplasia, myeloid leukaemias, pulmonary alveolar proteinosis and lymphedema.

Condition details

Patients with a GATA2 mutation can be susceptible to mycobacterial, viral and fungal infections. They may develop myelodysplasia, leukaemia, lymphedema or pulmonary alveolar proteinosis. Hematopoietic stem cell transplantation (HSCT) reverses the dominant symptoms of GATA2 deficiency.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Affected genes identified to date

  • GATA2 mutations occur throughout the gene.

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

How many are affected?

Ultra rare. IMD21 <1/ 1000 000 Emberger Syndrome <1/ 1000 000 Susceptibility to AML/MDS: Unknown

Support groups and organisations

No groups found

Known experts

No experts found

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