Abstract
The germline Guanine-adenine-thymine-adenine 2 (GATA2) heterozygous mutations (GATA2 deficiency) are identified as a complex immunodeficiency, which entails susceptibility to non-tuberculous mycobacterium (NTM), fungus, or Epstein-Barr virus (EBV) infection, and hematological disorders including myelodysplastic syndrome (MDS)/acute myelogenous leukemia, accompanied by characteristic sighs such as lymphedema or deafness. A 21-year-old woman with persistent EBV infection was diagnosed with GATA2 deficiency based on the onset of MDS and her family history. The patient underwent bone marrow transplantation from an unrelated donor. She developed steroid-resistant graft-versus-host disease (GVHD), leading to an NTM infection, the deterioration of lymphedema, and life-threatening gut bleeding caused by not only GVHD but also thrombotic microangiopathy. Although allogeneic hematopoietic stem cell transplantation is a potential therapeutic option in patients with GATA2 deficiency, GATA2 haploinsufficiency in non-hematopoietic cells may affect the post-transplant complications. Therefore, the establishment of treatment guidelines on donor and graft selection, the intensity of conditioning regimens, GVHD prophylaxis, and prevention of post-transplantation infections based on the history of infection and degree of organ damage is necessary for patients with GATA2 deficiency.
