Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification

Project Coordinator

Bellvitge Biomedical Research Institute


Bodo Grimbacher University Medical Center Freiburg Freiburg, Germany
Christoph Bock Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna, Austria
Lennart Hammarström Karolinska Institutet Stockholm, Sweden
Roger Geiger Institute for Research in Biomedicine Bellinzona, Switzerland

According to Cellular Pathways  Our immune system is highly personalized and it influences how well we respond to a wide range of infections and other diseases. Some people have mild or severe defects in their immune system, which makes them prone to infections, autoimmunity and cancer. Some of these defects are monogenetic and relatively well understood. But in many cases the molecular cause is entirely unknown, which makes them difficult to diagnose or to treat. In this project, we will use state-of-the-art OMICS datasets to dissect molecular pathways associated with ‘common variable immunodeficiency’ (CVID, ORPHA: #1572), an archetypical rare primary antibody deficiency (PAD) where impaired B cell function causes recurrent infections. Only a minor percentage of CVID individuals (˜25%) display monogenetic mutations. We will train our analysis pipeline on CVID patients with known monogenetic defects, to be ready to analyse samples of CVID patients with unknown genetic cause. We will also include patients with selective IgA deficiency (IgAD), which shares some clinical features with CVID and is often considered a preamble of CVID. Key leaders in CVID, immunology, genetics, epigenetics, proteomics, and bioinformatics will join forces to provide a novel and systematic classification of CVID (and IgAD) patients based on the molecular dissection of affected cellular pathways. Our approach will directly benefit PAD patients and provide a perspective for the personalized management of PAD through the use of technologies and approaches that are cost effective and ready to be used by clinical immunology experts.


E-Rare 2012 - Created by Toussaint Biger