Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a 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 (MSDs, MFDs) had significantly better overall survival (86% and 81%) in comparison with HCT from matched unrelated (66%; P < .05) and haploidentical donors (43%; P < .001). Superior overall survival was also seen in patients who received unconditioned transplants in comparison with myeloablative procedures (81% vs 54%; P < .003), although in unconditioned haploidentical donor HCT, nonengraftment 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 after 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 show that, if patients survive HCT, long-term cellular and humoral immune recovery is achieved.

Hassan, A., Booth, C., Brightwell, A., Allwood1, Z., Veys, P., Rao, K., et al. (2012). Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. BLOOD, 120(17), 3615-3624 [10.1182/blood-2011-12-396879].

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

FINOCCHI, ANDREA;CANCRINI, CATERINA;AIUTI, ALESSANDRO;
2012-10-25

Abstract

Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a 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 (MSDs, MFDs) had significantly better overall survival (86% and 81%) in comparison with HCT from matched unrelated (66%; P < .05) and haploidentical donors (43%; P < .001). Superior overall survival was also seen in patients who received unconditioned transplants in comparison with myeloablative procedures (81% vs 54%; P < .003), although in unconditioned haploidentical donor HCT, nonengraftment 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 after 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 show that, if patients survive HCT, long-term cellular and humoral immune recovery is achieved.
25-ott-2012
Pubblicato
Rilevanza internazionale
Articolo
Comitato scientifico
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
Con Impact Factor ISI
agammaglobulinemia; transplantation conditioning; severe combined immunodeficiency; humans; retrospective studies; infant, newborn; child; child, preschool; kaplan-meier estimate; infant; lymphocyte count; histocompatibility testing; immunity, cellular; unrelated donors; graft survival; treatment outcome; myeloablative agonists; hematopoietic stem cell transplantation; siblings; adenosine deaminase; male; female; t-lymphocytes; immunity, humoral
Hassan, A., Booth, C., Brightwell, A., Allwood1, Z., Veys, P., Rao, K., et al. (2012). Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. BLOOD, 120(17), 3615-3624 [10.1182/blood-2011-12-396879].
Hassan, A; Booth, C; Brightwell, A; Allwood1, Z; Veys, P; Rao, K; Hönig, M; Friedrich, W; Gennery, A; Slatter, M; Bredius, R; Finocchi, A; Cancrini, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/78117
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