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Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers

Lookup NU author(s): Dr Christo TsilifisORCiD, Dr Eleri Williams, Professor Mary Slatter, Professor Andrew GenneryORCiD

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


Abstract

© 2023, The Author(s). X-linked chronic granulomatous disease (XL-CGD) is an inherited disorder of superoxide production, causing failure to generate the oxidative burst in phagocytes. It is characterized by invasive bacterial and fungal infections, inflammation, and chronic autoimmune disease. While XL-CGD carriers were previously assumed to be healthy, a range of clinical manifestations with significant morbidity have recently been described in a subgroup of carriers with impaired neutrophil oxidative burst due to skewed lyonization. Allogeneic hematopoietic stem cell transplantation (HSCT) is the standard curative treatment for CGD but has rarely been reported in individual symptomatic carriers to date. We undertook a retrospective international survey of outcome of HSCT for symptomatic XL-CGD carriers. Seven symptomatic female XL-CGD carriers aged 1–56 years underwent HSCT in four centers, indicated for severe and recurrent infection, colitis, and autoimmunity. Two patients died from transplant-related complications, following donor engraftment and restoration of oxidative burst. All surviving patients demonstrated resolution of their neutrophil oxidative burst defect with concordant reduction in infection and inflammatory symptoms and freedom from further immunosuppressive therapy. In conclusion, allogeneic HSCT may cure the phagocyte defect in symptomatic XL-CGD carriers and improve their recurrent and disabling infective and inflammatory symptoms but risks transplant-related complications.


Publication metadata

Author(s): Tsilifis C, Torppa T, Williams EJ, Albert MH, Hauck F, Soncini E, Kang E, Malech H, Schuetz C, von Bernuth H, Slatter MA, Gennery AR

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2023

Volume: 43

Pages: 1964-1973

Online publication date: 24/08/2023

Acceptance date: 17/08/2023

Date deposited: 18/09/2023

ISSN (print): 0271-9142

ISSN (electronic): 1573-2592

Publisher: Springer New York LLC

URL: https://doi.org/10.1007/s10875-023-01570-z

DOI: 10.1007/s10875-023-01570-z

Data Access Statement: The data used in this study are not publicly available but may be available from the authors on reasonable request


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Funding

Funder referenceFunder name
National Institute of Allergy and Infectious Diseases Division of Intramural Research (NIAID DIR) at the National Institutes of Health (NIH)

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