Advances in the treatment of severe combined immunodeficiency.
Gene therapy
Hematopoioetic stem cell transplantation
Newborn screening
Severe combined immunodeficiency
Journal
Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
received:
06
03
2022
revised:
10
06
2022
accepted:
01
08
2022
pubmed:
9
8
2022
medline:
14
9
2022
entrez:
8
8
2022
Statut:
ppublish
Résumé
Severe Combined Immunodeficiency (SCID) is the most profound inborn error of immunity affecting cellular and humoral immunity. Hematopoietic stem cell transplantation has been a curative treatment since 1968. Huge progress has been made since then in understanding the underlying genetics, improving outcomes from transplant, and introducing gene therapy in particular for adenosine deaminase deficient- and IL2 receptor gamma-deficient SCID. Newborn screening has been widely introduced across the world to enable definitive treatment before infection occurs. This article aims to review the latest evidence on how to achieve curative treatment with minimal short- and long-term toxicity, normal immune reconstitution and good quality of life.
Identifiants
pubmed: 35940359
pii: S1521-6616(22)00165-6
doi: 10.1016/j.clim.2022.109084
pii:
doi:
Substances chimiques
Adenosine Deaminase
EC 3.5.4.4
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
109084Informations de copyright
Copyright © 2022 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare no conflicts of interest.