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Immunoglobulin class-switch recombination deficiencies

1 Jan 2012

Abstract excerpt

Immunoglobulin class-switch recombination deficiencies (Ig-CSR-Ds) are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect in question, the Ig-CSR-D may be combined with an impairment in somatic hypermutation (SHM). Some of the mechanisms underlying Ig-CSR and SHM have been described by studying natural mutants in humans. This...

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PMID: 22894609
DOI: 10.1186/ar3904

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