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Hematopoietic stem cell transplantation for primary immunodeficiency disease.

Hematopoietic stem cell transplantation is the definitive therapy for a variety of rare primary cellular immunodeficiency syndromes diagnosed in children. All primary immunodeficiencies benefit from early diagnosis and transplantation before the development of serious infections, which contribute to a significant increased risk of mortality following transplant. In the absence of a matched sibling, parental haplocompatible, matched unrelated donor and cord blood stem cells have all been utilized with varying degrees of success and immune reconstitution. The role of pretransplant conditioning in patients with SCID disease in terms of its effects upon T- and B-cell immune reconstitution and late effects is still under debate and will require further study.

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