Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

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...

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Main Authors: Guillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Eva González-Roca, Ana María Plaza-Martin, Ángela Deyà-Martínez, Andrea Martín-Nalda, Mónica Martínez-Gallo, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Marta Codina-Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Pere Soler-Palacín, Roger Colobran, Jordi Yagüe, Laia Alsina, Manel Juan, Ferran Casals
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-05-01
Series:Frontiers in Immunology
Subjects:
common variable immunodeficiency
primary immunodeficiency
exome sequencing
loss-of-function
rare disease genetics
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2018.00636/full

Internet

http://journal.frontiersin.org/article/10.3389/fimmu.2018.00636/full

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