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Ataxia Telangiectasia

July 31, 2007

Ataxia Telangiectasia——>IgA deficiency
1.cereberal ataxia(narrow-based gate)
2.telangiectasia
3.risk of sinopulmonary infections
Defect in the DNA break repair gene ATM (Ataxia Telangiectasia Mutant).
IgA deficiency-infections of the upper and lower airways.
ATM gene encodes a kinase essential for p53 activity. ATM is inactivated in ataxia telangiectasia–>hypersensitivity to x-rays and predisposition to lymphomas.
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