On January 23 and 24, the first meeting of the international project “IEI-Haem: The interplay between Inborn Error of Immunity and blood disorders: unraveling immune defects behind common haematological diseases” was held at the Meyer Health Campus in Florence.

This is a project within the framework of the European Joint Programme Rare Diseases (EJP RD) coordinated by the Meyer Children's Hospital IRCCS in Florence, in which the Vall d'Hebron Research Institute (VHIR), the Imagine Institute in Paris, the CHU Sainte-Justine in Montreal, the University of Rome Tor Vergata and the Karolinska Institutet in Stockholm participate, and other European centers and patient associations collaborate. The study is funded under the Joint Translational Call 2023.

On behalf of the VHIR, professionals from the Pediatric Patient Infection and Immunity group of the VHIR attended the meeting: Dr. Pere Soler, head of the group, as the principal investigator of one of the project work packages, Dr. Jacques Rivière and Dr. Laura Batlle as researchers and Miriam González as the local project manager of the project.

A project to improve care for patients with inborn errors of immunity

Inborn errors of immunity (IEI) are a group of rare disorders of the immune system that cause infections, as well as hematological autoimmunity and malignancy, with a great impact on the life expectancy and quality of life of those affected. Increasingly, hematological problems are detected in patients with IEI, both autoimmune cytopenias, lymphoproliferative disorders, and insufficiency syndromes. However, large prospective studies aimed at revealing IEI in patients with these hematological manifestations are lacking. In addition, the description of disease-causing somatic mutations and phenocopies pose a diagnostic challenge in these cases.

The research of this project aims to identify the IEI behind blood disorders in children and young people, detecting early biomarkers that allow for appropriate treatment and improve the prognosis and quality of life of patients.

In this international study, patients under 25 years of age with autoimmune cytopenias, polyclonal and clonal lymphoproliferation, myelodysplasia and hereditary bone marrow failure syndromes will be recruited. Participants will undergo a comprehensive immunological evaluation along with genetic testing to detect variants or altered molecular pathways related to the diseases.

The results will allow assessing the frequency of congenital errors in immunity behind common blood disorders, increasing collaboration between immunologists and hematologists from different countries. “We also aim to identify molecular biomarkers that can promote early diagnosis and guide treatment decisions to improve the life expectancy and quality of life of patients”, explains Dr. Pere Soler, Head of Section of the Pediatric Infectious Pathology and Immunodeficiencies Unit at the Vall d'Hebron University Hospital and Head of the Pediatric Infection and Immunity Research Group at the VHIR.

Vall d'Hebron will co-lead the immune evaluation study with the team of the CHU Sainte-Justine in Montreal and with the participating patient associations, all the dissemination work of the project. In addition, the center's Biobank has been chosen as the final recipient of all samples from the European centers for future research that may arise from it.

The EJP RD initiative has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement N°825575