Article
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
Frontiers in immunology - 1 Jan 2018
de Valles-Ibáñez Guillem, Esteve-Solé Ana, Piquer Mònica, González-Navarro E Azucena, Hernandez-Rodriguez Jessica, Laayouni Hafid, González-Roca Eva, Plaza-Martin Ana María, Deyà-Martínez Ángela, Martín-Nalda Andrea, Martínez-Gallo Mónica, García-Prat Marina, Del Pino-Molina Lucía, Cuscó Ivón, Codina-Solà Marta, Batlle-Masó Laura, Solís-Moruno Manuel, Marquès-Bonet Tomàs, Bosch Elena, López-Granados Eduardo, Aróstegui Juan Ignacio, Soler-Palacín Pere, Colobran Roger, Yagüe Jordi, Alsina Laia, Juan Manel, Casals Ferran
Abstract excerpt
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have...
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