Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study

Key Points

• Hematopoietic stem cell transplantation improves outcomes for purine nucleoside phosphorylase deficiency.
• Retention of donor chimerism was observed in 85% of patients before 2 years post-transplant.
• Retrospective study conducted under the EBMT across multiple centers indicates the need for further exploration.
• These findings suggest the potential for improved patient management and long-term survival, though further validation is necessary.