Journal
NATURE REVIEWS IMMUNOLOGY
Volume 13, Issue 7, Pages 519-533Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nri3466
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Funding
- Institut National de la Sante et de la Recherche Medicale
- European Union [201549]
- European Union (ERC PIDIMMUNE) [249816]
- Association Contre Le Cancer
- ANR Blanc 2010-CSRD
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Primary antibody deficiencies (PADs) are the most common inherited immunodeficiencies in humans. The use of novel approaches, such as whole-exome sequencing and mouse genetic engineering, has helped to identify new genes that are involved in the pathogenesis of PADs and has enabled the characterization of the molecular pathways that are involved in B cell development and function. Here, we review the different PADs in terms of their known or putative mechanisms, which can be B cell intrinsic, B cell extrinsic or not defined so far. We also describe the clinical manifestations (including susceptibility to infections, autoimmunity and cancer) that have been associated with the various PADs.
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