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Ataxia Telangiectasia - Immunology USMLE Step 1
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• 06/24/23
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Ataxia Telangiectasia - Immunology USMLE Step 1:
Defects in ATM gene failure to detect DNA damage leading to halt progression of cell cycle mutations accumulate
autosomal recessive
Triad:
cerebellar defects (Ataxia),
spider Angiomas (telangiectasia),
IgA deficiency extremely increased sensitivity to radiation (limit x-ray exposure)
FINDINGS:
Increased AFP
Decreased IgA, IgG, and IgE
Lymphopenia,
Cerebellar atrophy
Increased risk of lymphoma and leukemia
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