How I treat ADA deficiency

Détails

ID Serval
serval:BIB_01140FAB3805
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
How I treat ADA deficiency
Périodique
Blood
Auteur(s)
Gaspar H. B., Aiuti A., Porta F., Candotti F., Hershfield M. S., Notarangelo L. D.
ISSN
1528-0020 (Electronic)
ISSN-L
0006-4971
Statut éditorial
Publié
Date de publication
2009
Volume
114
Numéro
17
Pages
3524-32
Langue
anglais
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.
Résumé
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.
Mots-clé
Adenosine Deaminase/*deficiency, Animals, Cattle, *Hematopoietic Stem Cell Transplantation, Humans, Severe Combined Immunodeficiency/enzymology/etiology/*therapy
Pubmed
Open Access
Oui
Création de la notice
01/11/2017 11:29
Dernière modification de la notice
08/05/2019 13:40
Données d'usage