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Article

Primary immunodeficiencies associated with DNA-repair disorders

1 Mar 2010

Abstract excerpt

DNA-repair pathways recognise and repair DNA damaged by exogenous and endogenous agents to maintain genomic integrity. Defects in these pathways lead to replication errors, loss or rearrangement of genomic material and eventually cell death or carcinogenesis. The creation of diverse lymphocyte receptors to identify potential pathogens requires breaking and randomly resorting gene segments encoding antigen...

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PMID: 20298636
DOI: 10.1017/s1462399410001419

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