[Allogeneic hematopoietic stem cell transplantation for RASGRP2 gene-related inherited platelet function disorders: a case report and literature review].

This study retrospectively analyzed a 4-year-and-8-month-old boy with RASGRP2-associated inherited platelet function disorders (IPFD) who was successfully treated with allogeneic hematopoietic stem cell transplantation, along with a review of the relevant literature. The patient presented with a 3-year history of recurrent epistaxis, and following comprehensive evaluation, he was diagnosed as having RASGRP2-related IPFD. Because of life-threatening bleeding risk and poor response to conventional treatment, an HLA-matched sibling without the pathogenic variant was selected as the donor, and a myeloablative conditioning regimen was administered. Platelet engraftment was achieved on Day 13 posttransplantation, and neutrophil and erythrocyte engraftment occurred on Day 18. Donor chimerism reached 99.7% on Day 22. Epistaxis during conditioning was controlled with nasal packing and platelet transfusion, and no bleeding recurred after platelet engraftment. At the 4-month follow-up, no graft-versus-host disease or severe infection was detected, and complete donor chimerism was confirmed.