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

• Published in: British medical bulletin Vol. 135; no. 1; pp. 4 - 15
• Main Author: Gennery, A R
• Format: Journal Article
• Language: English
• Published: England 14.10.2020
• Subjects: chimerism; primary immunodeficiencies; newborn screening; conditioning; long-term complications
• ISSN: 0007-1420; 1471-8391
• DOI: 10.1093/bmb/ldaa017

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. Review of recent literature. 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 co-morbidities-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. 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. Multidisciplinary working for optimum care is essential. International collaborations are important to learn about rare presentations and complications, and to formulate the most effective and safe treatment strategies.