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Progress in treating chronic granulomatous disease

Lookup NU author(s): Professor Andrew GenneryORCiD

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).

Abstract

© 2020 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd. Chronic granulomatous disease is a primary immunodeficiency due to a defect in one of six subunits that make up the nicotinamide adenine dinucleotide phosphate oxidase complex. The most commonly defective protein, gp91phox, is inherited in an X-linked fashion; other defects have autosomal recessive inheritance. Bacterial and fungal infections are common presentations, although inflammatory complications are increasingly recognized as a significant cause of morbidity and are challenging to treat. Haematopoietic stem cell transplantation offers cure from the disease with improved quality of life; overall survival in the current era is around 85%, with most achieving long-term cure free of medication. More recently, gene therapy is emerging as an alternative approach. Results using gammaretroviral vectors were disappointing with genotoxicity and loss of efficacy, but preliminary results using lentiviral vectors are extremely encouraging.

Publication metadata

Author(s): Gennery AR

Publication type: Review

Publication status: Published

Journal: British Journal of Haematology

Year: 2021

Volume: 192

Issue: 2

Pages: 251-264

Print publication date: 01/01/2021

Online publication date: 08/07/2020

Acceptance date: 02/04/2016

ISSN (print): 0007-1048

ISSN (electronic): 1365-2141

Publisher: Blackwell Publishing Ltd

URL: https://doi.org/10.1111/bjh.16939

DOI: 10.1111/bjh.16939

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