Abstract
Transplantation techniques for patients with primary immunodeficiencies have improved so that survival from the procedure in many cases is >80%. However, long term complications may arise due to the use or not of conditioning agents. This may result in variable immune reconstitution, the long term effects of chemotherapy, particularly on fertility, and complications relating to the genetic disorder, unresolved by transplantation. For patients with severe combined immunodeficiency (SCID), long term T- and B-lymphocyte immune reconstitution is best achieved after pre-transplant chemotherapy. For patients who receive an unconditioned infusion of donor stem cells, the quality of immune reconstitution depends on the SCID genotype. Long term effects include chemotherapy-induced impaired fertility, and sequelae specific to the genotype. For patients with other primary immunodeficiencies, conditioning is required—sequelae related to direct effects of chemotherapy may be observed. Additional long term effects may be observed due to partial donor chimerism resulting in incomplete eradication of disease, and other geno-specific effects.
Highlights
Incremental improvements in the approach to transplantation have ensured that survival following allogeneic hematopoietic stem cell transplantation (HSCT) for primary immunodeficiency (PID) is generally >80% [1,2,3,4]
Immune-reconstitution was reported to be variable, and it is clear that the outcome depends on the specific severe combined immunodeficiency (SCID) genotype and thereby the stage in which thymopoiesis is arrested
Thymopoiesis and humoral immunity is infrequently observed in unconditioned patients with NK+ SCID due to defects in recombination activating genes 1 and 2- (RAG1/2) and DCLRE1C (Artemis)
Summary
Incremental improvements in the approach to transplantation have ensured that survival following allogeneic hematopoietic stem cell transplantation (HSCT) for primary immunodeficiency (PID) is generally >80% [1,2,3,4]. As a consequence of this increase survival rate, more emphasis is being put on the quality of long term outcome. An overview on both specific immuno-hematological as well as overall quality of health perspectives is discussed below
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