Deficiency of the purine salvage enzyme adenosine deaminase leads to severe combined immunodeficiency (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to permanent cure of SCID, however little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from matched sibling and family donors (MSD, MFD) had significantly better overall survival (OS) (86% and 81%) in comparison to HCT from matched unrelated (66%; p<0.05) and haploidentical donors (43%; p<0.0001). Superior OS was also seen in patients who received unconditioned transplants in comparison to myeloablative procedures (81% vs 54%; p<0.003) although in unconditioned haploidentical donor HCT, non-engraftment was a major problem. Long term immune recovery showed that regardless of transplant type, overall T cell numbers were similar although a faster rate of T cell recovery was observed following MSD/MFD HCT. Humoral immunity and donor B cell engraftment was achieved in nearly all evaluable surviving patients and was seen even after unconditioned HCT. These data detail for the first time the outcomes of HCT for ADA-SCID and demonstrate that if patients survive HCT, long term cellular and humoral immune recovery is achieved

Outcome of hematopoietic stem cell transplantation for adenosine deaminase deficient severe combined immunodeficiency

AIUTI , ALESSANDRO;
2012

Abstract

Deficiency of the purine salvage enzyme adenosine deaminase leads to severe combined immunodeficiency (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to permanent cure of SCID, however little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from matched sibling and family donors (MSD, MFD) had significantly better overall survival (OS) (86% and 81%) in comparison to HCT from matched unrelated (66%; p<0.05) and haploidentical donors (43%; p<0.0001). Superior OS was also seen in patients who received unconditioned transplants in comparison to myeloablative procedures (81% vs 54%; p<0.003) although in unconditioned haploidentical donor HCT, non-engraftment was a major problem. Long term immune recovery showed that regardless of transplant type, overall T cell numbers were similar although a faster rate of T cell recovery was observed following MSD/MFD HCT. Humoral immunity and donor B cell engraftment was achieved in nearly all evaluable surviving patients and was seen even after unconditioned HCT. These data detail for the first time the outcomes of HCT for ADA-SCID and demonstrate that if patients survive HCT, long term cellular and humoral immune recovery is achieved
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/16156
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