Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Abstract
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.
Details
Original language | English |
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Pages (from-to) | 1964-1973 |
Number of pages | 10 |
Journal | Journal of clinical immunology |
Volume | 43 (2023) |
Issue number | 8 |
Publication status | Published - 24 Aug 2023 |
Peer-reviewed | Yes |
External IDs
Mendeley | 656ed7ae-2915-325f-89a5-5fe59d52a948 |
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ORCID | /0009-0003-6519-0482/work/147142933 |
PubMed | 37620741 |
Keywords
ASJC Scopus subject areas
Keywords
- Allogeneic HSCT, Chronic granulomatous disease, Lyonization, X-linked carrier, Granulomatous Disease, Chronic/diagnosis, Respiratory Burst, Humans, Neutrophils, Hematopoietic Stem Cell Transplantation, Female, Retrospective Studies