Immunological aspects of immunodeficiency diseases part 82

Immune 3


The function of the protein encoded by the affected gene (called ataxia telangiectasia mutated, or ATM) is to detect double strand breaks in DNA, initiating their repair. Mutated ATM results in defective control of the cell cycle. This explains the radiation sensitivity, abnormal immune cell development and function, and the cytogenetic abnormalities in AT.

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