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Lookup NU author(s): Dr Christo TsilifisORCiD, Dr Eleri Williams, Professor Mary Slatter, Professor Andrew GenneryORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 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.
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
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