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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2016

01-05-2016

Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies

Authors: Virginia C. Rodríguez-Cortez, Lucia del Pino-Molina, Javier Rodríguez-Ubreva, Eduardo López-Granados, Esteban Ballestar

Published in: Journal of Clinical Immunology | Special Issue 1/2016

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Abstract

Primary antibody deficiencies (PADs), the most prevalent inherited primary immunodeficiencies (PIDs), are associated with a wide range of genetic alterations (both monogenic or polygenic) in B cell-specific genes. However, correlations between the genotype and clinical manifestations are not evident in all cases indicating that genetic interactions, environmental and epigenetic factors may have a role in PAD pathogenesis. The recent identification of key defects in DNA methylation in common variable immunodeficiency as well as the multiple evidences on the role of epigenetic control during B cell differentiation, activation and during antibody formation highlight the importance of investing research efforts in dissecting the participation of epigenetic defects in this group of diseases. This review focuses on the role of epigenetic control in B cell biology which can provide clues for the study of potential novel pathogenic defects involved in PADs.
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Metadata
Title
Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies
Authors
Virginia C. Rodríguez-Cortez
Lucia del Pino-Molina
Javier Rodríguez-Ubreva
Eduardo López-Granados
Esteban Ballestar
Publication date
01-05-2016
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue Special Issue 1/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0267-4

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