Outcomes of Stem Cell Transplantation in Children with RIPK1-Deficiency
Author Information
Author(s): Rebecca B. Walsh, Peter McNaughton, Zohreh Nademi, Alexandra Laberko, Dmitry Balashov, Hamoud Al-Mousa, Peter D. Arkwright, Robert F. Wynn, Terry Flood, Eleri Williams, Andrew Cant, Mario Abinun, Sophie Hambleton, Mary Slatter, Andrew R. Gennery, Su Han Lum
Primary Institution: Royal Victoria Infirmary, Newcastle-Upon-Tyne, UK
Hypothesis
Can hematopoietic stem cell transplantation (HSCT) serve as a curative therapy for children with autosomal recessive RIPK1-deficiency?
Conclusion
HSCT is a potential curative therapy for RIPK1-deficiency, with 80% of patients in this study surviving and showing improvement in their condition.
Supporting Evidence
- All patients presented with very early onset inflammatory bowel disease.
- Four of five patients (80%) survived after HSCT.
- Two survivors were disease-free, and two had substantially improving enteropathy.
Takeaway
Doctors tried a special treatment called stem cell transplantation on 5 kids who were very sick because of a rare disease, and most of them got better.
Methodology
A multi-centre, international review of 5 children with RIPK1-deficiency who underwent HSCT, collecting data on demographics, disease characteristics, and transplant outcomes.
Limitations
The study is limited by the small sample size and the retrospective nature of data collection.
Participant Demographics
5 children (4 females) from 4 families, median age at transplant was 3 years.
Digital Object Identifier (DOI)
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