Ataxia telangiectasia overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Ataxia-telangiectasia (AT) is a primary immunodeficiency disorder. It is associated with a defect in T-cells.[1]
A-T is caused by mutations in the ATM gene on chromosome 11q22.3. It has various clinical and genetic presentations, and 2 types of the disease have been reported. [2]