Timely follow-up of a GATA2 deficiency patient allows successful treatment

GATA2 mutations cause a disease characterized by mycobacterial infection, monocytopenia, B- and NK-cell deficiency, with a high risk of progression to myelodysplasia (MDS) and acute leukemia. We report a patient affected by recurrent episodes of aphthous stomatitis since infancy and hematological features of GATA2 deficiency syndrome. He also had difficulties clearing Parvovirus B19 infection. GATA2 molecular analysis showed a mutation in exon 3. We followed him closely, monitoring his bone marrow every 6 months. After 1 year he developed refractory cytopenia (MDS), and therefore underwent HSCT from the HLA-matched (GATA2 wildtype) brother. He received treosulfan, fludarabine and thiotepa as conditioning and methotrexate and cyclosporine as GvHD prophylaxis post-transplantation. He is now 90 days post transplant and clinically well. He engrafted on day 23 and developed low grade GvHD successfully treated with steroids. High levels of donor engraftment were achieved in those hematopoietic compartments deficient pretransplantation. Here we illustrate the necessity to closely follow GATA2 deficiency patients and refer for HSCT in a timely manner.