Deficit of GATA-2 transcription factor: new immunodeficiency syndrome with broad phenotype. First patients diagnosed in the Czech Republic and review of the literature

Abstract

Defects in the zinc-finger transcription factor GATA-2 gene have been recently identified in variable phenotypes associated with myeloid malignancies - myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML): DCML (dendritic cell, monocyte, B-lymphocyte and NK-lymphocyte) deficiency or MonoMAC syndrome (monocytopenia with Mycobaterium avium complex infections), Emberger syndrome (early onset primary lymphoedema, multiple warts, sensorineural deafness, dysmorphism); and familial MDS/AML with no additional known phenotype. In the Czech Republic there have been 2 patients diagnosed with GATA-2 deficiency so far.

Keywords

• primary immunodeficiency
• GATA-2 deficiency
• MonoMA
• dendritic cell
• monocyte
• B lymphocyte
• natural killer lymphocyte deficiency (DCML)
• Emberger syndrome
• pulmonary alveolar proteinosis
• haematopoietic stem cell transplantation