Allogeneic hematopoietic cell transplantation for partial RAG deficiency in children and adults: excellent outcomes with a reduced intensity, posttransplantation cyclophosphamide-based approach - PubM
4 hours ago
- #hematopoietic cell transplantation
- #partial RAG deficiency
- #immune dysregulation
- Allogeneic hematopoietic cell transplantation (HCT) is effective for partial RAG deficiency (pRD) in children and adults.
- A reduced-intensity conditioning (RIC) approach with post-transplantation cyclophosphamide (PTCy) shows excellent outcomes.
- Overall survival rates were high: 92% at 1 year and 83% at 2 years for the entire cohort.
- RIC recipients (n=12) had 100% and 90% survival at 1 and 2 years, respectively.
- Clinical manifestations reversed with immune reconstitution, minimal de novo autoimmunity, and low GVHD incidence.
- Va7.2+ T cells increased rapidly post-HCT, while mucosa-associated invariant T cell reconstitution lagged.
- Dysreactive B cells and autoantibodies decreased post-HCT.
- Anti-type I interferon antibodies decreased slowly but neutralizing activity was reduced.
- Outcomes were not affected by donor carrier status or HLA-matching.
- Bronchiectasis exacerbations required rehospitalization in patients with irreversible lung disease pre-HCT.