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Research consortium to find new treatments for immuno-deficiencies

Novel disease classifications and treatment stratgies based on omics data

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Principle Investigators

The human immune system controls how we respond to infections and other diseases. However, its functioning differs substantially between individuals. Certain people have mild or severe immune defects, which makes them prone to infections, autoimmunity and cancer. Some of these immunodeficiencies are monogenetic and relatively well understood. But in many cases the molecular cause is entirely unknown, which makes these rare diseases difficult to diagnose and treat.


In this project, we use cutting-edge multi-omics profiling and integrative bioinformatics analysis to dissect the molecular pathways underlying common variable immunodeficiency (CVID, ORPHA: #1572), an archetypical rare primary antibody deficiency (PAD) where impaired B cell function causes recurrent infections. A subset of CVID individuals (~25%) display one or several monogenetic variants known to be associated with PADs. We will use such genetically resolved cases to identify recurrent epigenomic, transcriptomic and/or proteomic aberrations underlying CVID, and we will exploit the identified patterns to improve the diagnosis, stratification and mechanistic understanding of CVID patients with unknown genetic and/or non-genetic causes. We will also include patients with selective IgA deficiency (IgAD) due to its likely role as preamble of CVID, opening up the potential for accurate molecular diagnostics and disease stratification at an early stage.


In this project, Bodo Grimbacher, Lennart Hammarström, Esteban Ballestar, Christoph Bock, and Roger Geiger who are experts in the fields of CVID, immunology, genetics, epigenetics, proteomics, and bioinformatics have joined forces to provide a novel and systematic classification of CVID patients based on the molecular dissection of affected cellular pathways. Our approach will directly benefit PAD patients and provide a perspective for personalized management of PAD based on multi-omics technologies that are cost-effective and ready to be used by clinical immunology and rare diseases experts.

Bodo Grimbacher is a clinician scientist studying molecular mechanisms in immune cells underlying primary immunodeficiencies. In the iPAD project, he is responsible for patient recruitment, whole exome sequencing analyses as well as transcriptomics analyses of immune cells. His laboratory is based at the Center for Clinical Immunology in Freiburg, Germany.
Esteban Ballestar is an expert in epigenetics of immune-mediated diseases, immune differentiation models and epigenetics of primary immunodeficiencies. He is the coordinator of the iPADconsortium and responsible for the generation and analysis of the DNA methylation datasets. His laboratory is based at the Josep Carreras Research Institute (IJC) and the Institute for Health Science Research Germans Trias i Pujol (IGTP) in Barcelona.
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Christoph Bock's research combines experimental biology (htp sequencing, epigenetics, CRISPR screening, synthetic biology) with computational methods in cancer, immunology, and precision medicine. In the iPAD project, he is responsible for the generation and processing of several omics datasets and the development and use of integrative methods. Christoph is the scientific coordinator of the Biomedical Sequencing Facility of CeMM and group leader at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) in  Vienna.
Roger Geiger studies T cells using systems approaches. In the iPAD project, he is responsible for the proteomic analysis of immune cells from PAD patients. Roger's group is based at the Institute for Resaerch in Biomedicine in Bellinzona, Switzerland.


Overview of the work packages

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Data analysis

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