Tones of Pictures, Most Commons and Mnemonics

Tuesday, July 31, 2007

Ataxia Telangiectasia

Ataxia Telangiectasia------>IgA deficiency

1.cereberal ataxia(narrow-based gate)
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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