Scientific report 2020 of the Inborn Errors Working Party (IEWP)

Major achievements

In this unusual year, and despite the COVID-19 related limitations to meet each other during regular meetings, the IEWP has been able to organize several educational and scientific virtual events that have proven to be very successful and well attended.

In July, the first educational Midterm Focus Meeting (MFM) on stem cell transplantation in non-malignant diseases was organized in collaboration with the SAAWP, PDWP and the Nurses Group. The three IEWP sessions focused on Immune Dysregulation, non-SCID Inborn Errors of Immunity and Inherited Metabolic Disorders. The thematic and interactive Q&A sessions were each attended by the speakers panel and over hundred colleagues. Based on the very positive evaluation a second version of this MFM will be scheduled for the summer of 2021.

The annual Inborn Errors Working Party scientific and business meeting was this year meant to take place in Milano (host: Alessandro Aiuti). Because of the COVID-19 restrictions, the regular meeting was postponed until next year, and replaced by a virtual extended business meeting. More than one hundred international colleagues participated in this event in which current activities and reports on ongoing studies were discussed with the IEWP members. In addition, two excellent seminars were given by Raffaella Di Micco and Bernhard Gentner on behalf of the Milano team. In 2021, we hope that the circumstances will allow us to organize a regular IEWP autumn meeting in Milano.

In 2020, a series of excellent studies were published on behalf of IEWP, plus a number of reviews as part of a Golden Research Topic in Frontiers in Pediatrics on HSCT for Primary Immunodeficiencies and Rare Metabolic Diseases. For 2021 IEWP has the aim to further expand its active study program, which includes both retrospective cohort studies as well as biological studies, mostly performed in collaboration with ESID, SCETIDE, PIDTC and other international partners. In addition, a revised, updated version of the IEWP guidelines for HSCT in Inborn Errors of Immunity will be made available early 2021.

Clinical and immunological outcome after HSCT in SCID: IEWP-SCETIDE study
HSCT in Wiskott-Aldrich syndrome comparing Bu-Flu and Treo-Flu conditioning: IEWP-SCETIDE study
Long term outcome of HSCT for SCID: SCETIDE-IEWP-PIDTC study
HSCT for Erythropoietic Porphyria: EBMT-CIBMTR study
HSCT in Inherited Metabolic Diseases with focus on immune cytopenia: IEWP-Eurocord study
HSCT in LAL-Wolman’s disease
HSCT in patients with IFNg receptor deficiencies
HSCT in adolescent and adult patients with primary immunodeficiencies
Haploidentical SCT in PID comparing PT-Cy and TCRαβ depletion approaches
HSCT outcomes in hypomorphic RAG deficiency
Characteristics and HSCT outcome in Immunodeficiency, Centromer instability and Facial anomalies (ICF) syndrome
HSCT outcome in PNP SCID
Prediction outcome based on patient and donor factors (PREPAD)
HSCT outcome in mevalonate kinase deficiency
Second HSCT in Inborn Errors of Immunity