Med (N Y) 2022 Jan;3(1):42-57.e5
Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Center for Regenerative Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Harvard Stem Cell Institute, Cambridge, MA, USA; Massachusetts General Hospital Cancer Center, Boston, MA, USA. Electronic address:
Background: Idiopathic aplastic anemia is a potentially lethal disease, characterized by T cell-mediated autoimmune attack of bone marrow hematopoietic stem cells. Standard of care therapies (stem cell transplantation or immunosuppression) are effective but associated with a risk of serious toxicities.
Methods: An 18-year-old man presented with aplastic anemia in the context of a germline gain-of-function variant in STAT1. Read More