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Review
. 2013 Jul;13(7):519-33.
doi: 10.1038/nri3466. Epub 2013 Jun 14.

Primary antibody deficiencies

Anne Durandy  1 , Sven Kracker, Alain Fischer
Affiliations
Review

Primary antibody deficiencies

Anne Durandy et al. Nat Rev Immunol. 2013 Jul.

Abstract

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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