On December 18 and 19, the Vall d’Hebron Research Institute (VHIR) hosted the annual meeting of the project “The interplay between Inborn Errors of Immunity and blood disorders: unraveling immune defects behind common haematological diseases”, funded under the European Joint Programme on Rare Diseases.

Inborn errors of immunity (IEI) are genetic disorders of the immune system that can manifest as recurrent and severe infections, autoimmunity and inflammation, allergy, and cancer, with a significant impact on patients’ life expectancy and quality of life. In recent years, their association with various hematological disorders—particularly in children and young people—has become increasingly evident, highlighting the need for large prospective studies to identify which patients with these conditions are affected by an IEI.

During the annual meeting, representatives from the different centers participating in the project shared updates on the progress of the various work packages, preliminary results, and the next steps of the research, including patient recruitment, thereby strengthening international collaboration between immunology and hematology teams.

Representing VHIR, professionals from the Infection and Immunity in the Pediatric Patient research group took part in the meeting: Pere Soler, group leader and principal investigator; Jacques Rivière, Laura Batlle, Luca Zanieri, Raúl García, and Noemí Giménez as co-investigators, as well as Miriam González, the local project manager.

The meeting was made possible thanks to the collaboration of the BCN PID Foundation, a foundation that provides psychosocial support to people with an inborn error of immunity (IEI) and is a major driving force for research in this field, as well as the sponsorship of Pharming Group NV. The event was held at the VHIR central building, consolidating its relevant role within this European research consortium on rare diseases.

Objectives of the IEI-Haem project

The main objective of the IEI-Haem project is to identify and characterize inborn errors of immunity underlying more common hematological disorders in children and young adults, with the aim of improving early diagnosis and treatment. Specifically, the project seeks to:

• Identify IEI in children and young adults with hematological disorders through a detailed analysis of clinical and family history.
• Perform in-depth immunological and genetic analyses, applying advanced immunological techniques (cytokine profiling, lymphocyte subpopulation studies) and high-resolution genetic studies (NGS, RNA-seq) to identify an immunological basis, disease-causing genetic variants, and the molecular pathways involved.
• Discover biomarkers and improve personalized care, by correlating clinical, immunological, and genetic data to facilitate early diagnosis and the development of individualized therapies tailored to each patient’s profile.
• Ensure ethical data use and promote knowledge sharing, guaranteeing data protection through pseudonymization and compliance with international regulations, as well as disseminating results through open-access publications, public databases, and educational activities.