Challenges to allogeneic hematopoietic stem cell transplantation in a patient with GATA2 deficiency and persistent Epstein-Barr virus infection

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 lymphedema deafness. A 21-year-old woman with persistent EBV infection was diagnosed GATA2 deficiency based on the onset of MDS her family history. patient underwent bone marrow transplantation from an unrelated donor. She developed steroid-resistant graft-versus-host disease (GVHD), leading NTM deterioration lymphedema, life-threatening gut bleeding caused not only GVHD but also thrombotic microangiopathy. Although allogeneic hematopoietic stem cell is potential therapeutic option in patients deficiency, haploinsufficiency non-hematopoietic cells may affect post-transplant complications. Therefore, establishment treatment guidelines donor graft selection, intensity conditioning regimens, prophylaxis, prevention post-transplantation infections history degree organ damage necessary for deficiency.