News from DCEXS-UPF and IBE (CSIC-UPF)
Possible genetic models for the rare disease CVID have been explored in a new study led by Ferran Casals at DCEXS-UPF and Manel Juan at Hospital Clinic, with the participation of IBE researchers, and published in the journal Frontiers in Immunology.
One of their goals was to find the proportion of monogenic cases, that is to say, those caused by the alteration of a single gene. In this research, they performed the whole exome sequencing, a genomic technique for sequencing all of the protein-coding genes in the genome, of 36 children and adolescents with CVID. The scientists focused on the exome because, despite only representing 1% of the genome, it is where most of the mutations that cause diseases are found.
The results determined a monogenic origin of between 15 and 24% of cases of CVID. In most of them, the disease is caused by a mutation that makes the altered gene lose its functionality.“We demonstrate the potential of the complete sequencing of the exome as a tool for the study and diagnosis of primary immunodeficiencies. We hope that such studies will also help to detect and understand the key paths related to the development of the disease and of the immune response in general”, concludes Ferran Casals. Carlos Sierra / PRBB
Guillem de Valles-Ibáñez et, Ana Esteve-Sole, Mònica Piquer, Azucena González-Navarro, Jessica Hernández-Rodríguez, Hafid Laayouni, Eva González-Roca, Ana María Plaza-Martín, Angela Deyà-Martínez, Andrea Martín-Nalda, Mònica Martínez-Gallo, Marina García-Prat, Lucía del Pino, Ivon Cuscó, Marta Codina-Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Elena Bosch, Eduardo Lopez-Granados, Juan Ignacio Aróstegui, Pere Soler-Palacín, Roger Colobrán, Jordi Yagüe, Laia Alsina, Manel Juan and Ferran Casals. Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond. Frontiers in Immunology. April, 2018