Scientific report 2023 of the Inborn Errors Working Party (IEWP)

2023 has once again given us great opportunities to push back the frontiers of our knowledge in the fields of transplantation and cell therapy for immune deficiencies and non-malignant genetic diseases.

Several important studies conducted within the IEWP have been published, such as the results of allograft transplantation in patients with hypomorphic RAG deficiency (in collaboration with the PIDTC), the PREPAD study (Predicting Patient Death after Allogeneic Stem Cell Transplantation for Inborn Errors Using Machine learning), the multicentric retrospective experience of JAK inhibitor treatment for inborn errors of JAK/STAT signalling (in collaboration with ESID). The retrospective study on outcome of HLA-mismatched HSCT in patients with PID following in vitro T-cell depletion with CD3+TCRαβ/CD19 depleted PBSC or in vivo T-cell depleted HSCT with post-transplant cyclophosphamide is under revision. 

Important studies are on-going (on FHL2 and 3, haplo-transplant in CGD) or about to start (osteopetrosis, long term outcome in Chediak-Higashi syndrome…).

In June 2023, we met in Brescia for the midterm meeting co-organised with the PDWP and the AIWP. We all enjoyed our annual working party that took place in the nice city of Graz. The 140 participants enjoyed an outstanding scientific program.

Education remained also our top priority. The very first international IEWP spring school on HSCT in IEIs took place in April at Frauenchiemsee in Germany. 22 attendees and 7 faculty members met for 4 days to cover the main specificities of cellular therapies in this field. This event was very much appreciated by attendees. The second edition will take place in Montserrat, close to Barcelona in June 2024.