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A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

7 May 2007

Abstract excerpt

Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic hypermutation (SHM). Deficiencies in CD40 ligand, CD40, activation-induced cytidine deaminase, and uracil-N-glycosylase may account for this syndrome. We previously described another Ig CSR deficiency...

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Identifiers

PMID: 17485519
DOI: 10.1084/jem.20070087

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