Related Experiment Video
Updated: Sep 27, 2026
Ex Vivo Expansion of Hematopoietic Stem Cells from Human Umbilical Cord Blood-derived CD34+ Cells Using Valproic Acid
Published on: April 11, 2019
Successful umbilical cord blood stem cell transplantation for chronic granulomatous disease
A Bhattacharya1, M Slatter, A Curtis
1Newcastle upon Tyne Hospitals, NHS Trust, University of New Castle upon Tyne, UK.
Insights
Successful umbilical cord stem cell transplantation (UCSCT) offers a potential cure for chronic granulomatous disease (CGD). This first reported case shows resolution of severe symptoms and improved health after UCSCT.
Area of Science:
- Immunology
- Hematology
- Pediatric Medicine
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by impaired neutrophil function, leading to severe infections and inflammatory complications.
- Current management for CGD includes prophylactic antibiotics and anti-inflammatory agents, which manage but do not cure the disease, and patients often face significant morbidity and reduced lifespan.
Observation:
- This report details the first successful case of myeloablative HLA-identical sibling umbilical cord stem cell transplantation (UCSCT) in a pediatric patient diagnosed with CGD at age two.
- The patient presented with severe colitis, a significant inflammatory manifestation of CGD.
Findings:
- Following busulfan and cyclophosphamide conditioning, the patient received UCSCT from an unaffected HLA-identical sibling.
- One year post-transplantation, the patient exhibited complete clinical resolution of colitis, improved growth, and normalized neutrophil oxidative burst function (92% of normal).
- Full donor lymphocyte engraftment was confirmed, indicating successful immune reconstitution.
Implications:
- HLA-identical sibling UCSCT is a viable and potentially curative therapeutic option for severe, refractory chronic granulomatous disease.
- This approach may prevent long-term inflammatory sequelae and improve survival in CGD patients.
- Further research into optimizing conditioning regimens and long-term outcomes for UCSCT in CGD is warranted.
Abstract:
Chronic granulomatous disease (CGD) causes growth failure, inflammatory lung damage and often early death. Prophylactic cotrimoxazole improves medium-term survival, but cannot prevent inflammatory sequelae. We report the first patient with CGD who underwent successful HLA identical sibling umbilical cord stem cell transplantation (UCSCT) after myeloablative conditioning. The patient presented with colitis, confirmed as CGD at 2 years of age. Following BU16/CY200 conditioning, he had UCSCT from his unaffected HLA identical sister. A year post-transplant, his colitis had resolved clinically and on radioisotope scan growth has improved. Neutrophil oxidative burst was 92% normal with full donor lymphocyte reconstitution.
