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Updated: May 10, 2026

Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function
Published on: February 16, 2017
Primary antibody deficiencies
Anne Durandy1, Sven Kracker, Alain Fischer
1National Institute of Health and Medical Research, INSERM U768, Necker Children's Hospital, F-75015 Paris, France. anne.durandy@inserm.fr
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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