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Advances in the treatment of severe combined immunodeficiency

Lookup NU author(s): Professor Mary Slatter, Professor Andrew GenneryORCiD

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Abstract

© 2022 Elsevier Inc. 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.


Publication metadata

Author(s): Slatter MA, Gennery AR

Publication type: Article

Publication status: Published

Journal: Clinical Immunology

Year: 2022

Volume: 242

Online publication date: 05/08/2022

Acceptance date: 01/08/2022

ISSN (print): 1521-6616

ISSN (electronic): 1521-7035

Publisher: Academic Press Inc.

URL: https://doi.org/10.1016/j.clim.2022.109084

DOI: 10.1016/j.clim.2022.109084

PubMed id: 35940359


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