How I treat ADA deficiency

Details

Serval ID
serval:BIB_01140FAB3805
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
How I treat ADA deficiency
Journal
Blood
Author(s)
Gaspar H. B., Aiuti A., Porta F., Candotti F., Hershfield M. S., Notarangelo L. D.
ISSN
1528-0020 (Electronic)
ISSN-L
0006-4971
Publication state
Published
Issued date
2009
Volume
114
Number
17
Pages
3524-32
Language
english
Notes
Gaspar, H Bobby
Aiuti, Alessandro
Porta, Fulvio
Candotti, Fabio
Hershfield, Michael S
Notarangelo, Luigi D
eng
TGT06A01/Telethon/Italy
Intramural NIH HHS/
Research Support, N.I.H., Intramural
Review
Blood. 2009 Oct 22;114(17):3524-32. doi: 10.1182/blood-2009-06-189209. Epub 2009 Jul 28.
Abstract
Adenosine deaminase deficiency is a disorder of purine metabolism leading to severe combined immunodeficiency (ADA-SCID). Without treatment, the condition is fatal and requires early intervention. Haematopoietic stem cell transplantation is the major treatment for ADA-SCID, although survival following different donor sources varies considerably. Unlike other SCID forms, 2 other options are available for ADA-SCID: enzyme replacement therapy (ERT) with pegylated bovine ADA, and autologous haematopoietic stem cell gene therapy (GT). Due to the rarity of the condition, the lack of large scale outcome studies, and availability of different treatments, guidance on treatment strategies is limited. We have reviewed the currently available evidence and together with our experience of managing this condition propose a consensus management strategy. Matched sibling donor transplants represent a successful treatment option with high survival rates and excellent immune recovery. Mismatched parental donor transplants have a poor survival outcome and should be avoided unless other treatments are unavailable. ERT and GT both show excellent survival, and therefore the choice between ERT, MUD transplant, or GT is difficult and dependent on several factors, including accessibility to the different modalities, response of patients to long-term ERT, and the attitudes of physicians and parents to the short- and potential long-term risks associated with different treatments.
Keywords
Adenosine Deaminase/*deficiency, Animals, Cattle, *Hematopoietic Stem Cell Transplantation, Humans, Severe Combined Immunodeficiency/enzymology/etiology/*therapy
Pubmed
Open Access
Yes
Create date
01/11/2017 11:29
Last modification date
08/05/2019 13:40
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