Ataxia Telangiectasia - Immunology USMLE Step 1

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06/24/23

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