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

Amel Hassan, Claire Booth, Alex Brightwell, Zoe Allwood, Paul Veys, Kanchan Rao, Manfred Hönig, Wilhelm Friedrich, Andrew Gennery, Mary Slatter, Robbert Bredius, Andrea Finocchi, Caterina Cancrini, Alessandro Aiuti, Fulvio Porta, Arnalda Lanfranchi, Michela Ridella, Colin Steward, Alexandra Filipovich, Rebecca MarshVictoria Bordon, Saleh Al-Muhsen, Hamoud Al-Mousa, Zobaida Alsum, Hasan Al-Dhekri, Abdulaziz Al Ghonaium, Carsten Speckmann, Alain Fischer, Nizar Mahlaoui, Kim E. Nichols, Eyal Grunebaum, Daifulah Al Zahrani, Chaim M. Roifman, Jaap Boelens, E. Graham Davies, Marina Cavazzana-Calvo, Luigi Notarangelo, H. Bobby Gaspar

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)3615-3624
Number of pages10
JournalBlood
Volume120
Issue number17
DOIs
Publication statusPublished - Oct 25 2012

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ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

Cite this

Hassan, A., Booth, C., Brightwell, A., Allwood, Z., Veys, P., Rao, K., Hönig, M., Friedrich, W., Gennery, A., Slatter, M., Bredius, R., Finocchi, A., Cancrini, C., Aiuti, A., Porta, F., Lanfranchi, A., Ridella, M., Steward, C., Filipovich, A., ... Gaspar, H. B. (2012). Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood, 120(17), 3615-3624. https://doi.org/10.1182/blood-2011-12-396879