Early HCT Following Newborn Screening for SCID: Results and Outcomes

by | Jul 8, 2026 | Webinars

Early HCT Following Newborn Screening for SCID: Results and Outcomes

This webinar will be on February 9, 2027 (16:00 CET)

Registration

This webinar will use the complete 9-year experience of the Catalan NBS programme as a case study of the broader clinical benefits of universal newborn screening for SCID, with a focus on HCT outcomes, immune reconstitution, chimerism, and long-term follow-up. We will discuss how early diagnosis through NBS shapes transplant outcomes, the role of different donor sources and conditioning regimens in very young infants, and the management of complications including GVHD, viral reactivations, and autoimmunity. We will also address the expanding role of gene therapy and thymus transplantation for genotypes not suitable for standard HCT, and the critical importance of international networks for access to these novel therapies. 

Results will be compared with published international cohorts (PIDTC Lancet 2023, Switzerland, California NBS), reinforcing the broader message that early, pre-infection diagnosis through NBS is associated with the best outcomes worldwide, regardless of the specific programme model. The webinar will close with a call to expand universal SCID NBS to all Spanish regions and European countries currently without a programme. 

Speaker:

·Dr. Laura Alonso García, Attending Physician, Paediatric Haematopoietic Stem Cell Transplant Unit, Vall d’Hebron University Hospital, Barcelona, Spain.

Learning outcomes: 

After attending this webinar participants will be able to:

  • Describe the rationale and design of universal TREC-based newborn screening for SCID — including the principle of centralised, rapid (24–72h) referral following a positive screen — using the Catalan algorithm as a working example.
  • Identify the key pre-HCT and peri-HCT factors that determine outcome in NBS-identified SCID, including age at transplant, infection status, donor type, and conditioning regimen.
  • Interpret HCT outcome data (OS, engraftment, GVHD, immune reconstitution, chimerism) in NBS-identified SCID, and recognise how early, pre-infection diagnosis improves survival across published international cohorts.
  • Evaluate the role of gene therapy and thymus transplantation as alternatives to HCT in specific SCID genotypes, and recognise when international referral is required.
  • Advocate for the expansion of universal SCID NBS worldwide, based on the survival benefits demonstrated across national and regional programmes to date.