Successful Treatment of POLD1 Deficiency With HSCT: Report of Two Years' Experience
Stem cell transplant successfully cured a patient with an ultra-rare DNA repair disorder, opening a treatment path for similar cases.
A single case report describes the first successful HSCT in a rare primary immunodeficiency (POLD1 deficiency) using a reduced-intensity regimen, achieving full engraftment and immune reconstitution at 2-year follow-up despite prior concerns about DNA repair-related toxicity from conditioning. The case establishes HSCT as a feasible option for POLD1 deficiency and is important for the rare disease field.
What the study was
- Study design
- Case report (first reported HSCT in POLD1 deficiency)
- Population
- 18-year-old with POLD1 deficiency (rare primary immunodeficiency) — single case
- Sample size
- 1
- Category
- Treatment Innovation
- Maturity
- Exploratory
- Journal
- Pediatric Transplantation
Why it surfaced
First reported HSCT in an ultra-rare immunodeficiency (POLD1 deficiency) — case report cap applies (max score 4 per schema rules). High novelty for rare disease specialists; practical guidance for conditioning regimen selection in DNA-repair-deficient PIDs.
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