The challenges presented by haematopoietic stem cell transplantation in children with primary immunodeficiency

Abstract

Introduction or background: For many primary immunodeficiencies (PIDs), haematopoietic stem cell transplantation (HSCT) offers treatment to cure disease. However, patients with PID present a unique set of challenges when considering HSCT. Sources of data: Review of recent literature. Areas of agreement: The most significant recent impact on successful outcome is introduction of newborn screening programmes for diagnosis of severe combined immunodeficiency-wider adoption of screening in an increasing number of countries will see further improvements. Other PIDs have better outcomes when treated earlier, before development of comorbidities- early referral for consideration of HSCT is important. Evolution of conditioning regimens is improving short- and long-term toxicities- targeted busulfan and low-toxicity myeloablative treosulfan regimens deliver good survival with reduced short-term toxicities. Areas of controversy: The most radical development, still in clinical trials, is the use of mono-antibody-based conditioning, which eliminates the requirement for chemotherapy and is likely to become much more important in HSCT for non-malignant disease in the future. Growing points: Multidisciplinary working for optimum care is essential. Areas timely for developing research: International collaborations are important to learn about rare presentations and complications, and to formulate the most effective and safe treatment strategies.