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Scientific report 2022 of the Inborn Errors Working Party (IEWP)

Major achievements

In 2022, we managed to finish and publish three major studies for our community in Blood: outcome of HSCT in adult patients with IEIs, outcome of HSCT in Wiskott-Aldrich, and HSCT in hypomorphic RAG deficiency. The latter was a collaborative study with PIDTC. 
The large retrospective study on haplo-transplant with TCRab/CD19 depletion or PTCY is in its final steps of manuscript preparation. The study on outcome of patients with IEI after second transplant is progressing very well.

In 2023, the IEWP will continue its scientific activities on important topics in close collaborations with partners such as ESID, ERN RITA, SCETIDE and PIDTC. New studies on HLH2 and HLH3 in collaboration with the HLH-registry have been initiated and data requests to centres should be disseminated soon. A retrospective study on haplo-transplant in CGD is also about to start. A steering committee for writing guidelines regarding late outcome monitoring of transplanted patients with IEIs is starting in collaboration with the clinical working party of ESID.

In September 2022, we held our Annual Conference in person in Paris. The 150 participants coming from 15 countries, mainly European, enjoyed an outstanding scientific program. 
Education remains also a top priority. Postponed by COVID, the very first international IEWP Spring School on HSCT in IEIs will finally take place in April 2023 with 22 attendees and 7 faculty members at Frauenchiemsee in Germany.

Principal research studies

IEWP-Impact Factor
  2019 2020 2021 2022
Oral presentations 9 3 3 7
Poster presentations 0 1 1 0
Educational events 3 3 3 3