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Updated: May 27, 2026
Bone Marrow Transplantation Platform to Investigate the Role of Dendritic Cells in Graft-versus-Host Disease
Published on: March 17, 2020
Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease
Caridad A Martinez1, Sweta Shah, William T Shearer
1Center for Cell and Gene Therapy, Baylor College of Medicine, The Methodist Hospital, and Texas Children's Hospital, Houston, Tex 77030, USA. camartin@txch.org
Insights
Hematopoietic stem cell transplantation (HSCT) using matched related donors (MRD) or matched unrelated donors (MUD) offers equivalent outcomes for chronic granulomatous disease (CGD). HSCT is a viable early treatment option for CGD patients.
Area of Science:
- Immunology
- Pediatrics
- Hematology
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder.
- Hematopoietic stem cell transplantation (HSCT) is a curative treatment for CGD.
- While matched related donor (MRD) HSCT is established, outcomes with matched unrelated donor (MUD) HSCT are less certain.
Purpose of the Study:
- To evaluate the safety and efficacy of HSCT in children with CGD.
- To compare outcomes between MRD and MUD HSCT for CGD treatment.
Main Methods:
- Retrospective analysis of 11 children with CGD undergoing HSCT (4 MRD, 7 MUD).
- Patients received conditioning regimens including busulfan, cyclophosphamide, cytarabine, or fludarabine, with alemtuzumab, and GvHD prophylaxis.
- Disease types included X-linked (9) and autosomal recessive (2) CGD; 9 patients had prior serious infections.
Main Results:
- Successful neutrophil engraftment and sustained correction of neutrophil oxidative burst defect in all patients.
- Median neutrophil recovery times were 16 days (MRD) and 18 days (MUD).
- All patients survived 1-8 years post-HSCT, with only mild acute GvHD observed.
Conclusions:
- HSCT from both MRD and MUD is safe and effective for treating CGD.
- Equivalent outcomes support considering HSCT as an early therapeutic option for CGD.
Background:
Matched related donor (MRD) hematopoietic stem cell transplantation (HSCT) is a successful treatment for chronic granulomatous disease (CGD), but the safety and efficacy of HSCT from unrelated donors is less certain.
Objective:
We evaluated the outcomes and overall survival in patients with CGD after HSCT.
Methods:
We report the outcomes for 11 children undergoing HSCT from an MRD (n = 4) or an HLA-matched unrelated donor (MUD) (n = 7); 9 children were boys, and the median age was 3.8 years (range, 1-13 years). We treated both X-linked (n = 9) and autosomal recessive (n = 2) disease. Nine children had serious clinical infections before transplantation. The conditioning regimens contained busulfan, cyclophosphamide, cytarabine, or fludarabine according to the donor used. All patients received alemtuzumab (anti-CD52 antibody). Additional graft-versus-host disease (GvHD) prophylaxis included cyclosporine and methotrexate for MUD recipients and cyclosporine and prednisone for MRD recipients.
Results:
Neutrophil recovery took a median of 16 days (range, 12-40 days) and 18 days (range, 13-24 days) for MRD and MUD recipients, respectively. Full donor neutrophil engraftment occurred in 9 patients, and 2 had stable mixed chimerism; all patients had sustained correction of neutrophil oxidative burst defect. Four patients had grade I skin acute GVHD responding to topical treatment. No patient had grade II to IV acute GvHD or chronic GvHD. All patients are alive between 1 and 8 years after HSCT.
Conclusion:
For CGD, equivalent outcomes can be obtained with MRD or MUD stem cells, and HSCT should be considered an early treatment option.
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