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His parents state that he has had multiple similar episodes over the past year with two brief
hospitalizations for pneumonia. Physical examination of the skin reveals lesions like those seen in the image. Laboratory tests show
very low serum levels of IgA.
The image shows spider angiomas, which commonly occur on the ears and cheeks of patients
with ataxia-telangiectasia. Ataxia-telangiectasia is an autosomal recessive disorder caused a by
mutation on chromosome 11q22-23 that results in a defect in DNA repair enzymes. It manifests
as a variable combination of progressive neurologic impairment, cerebellar ataxia, variable
immunodeficiency (usually IgA deficiency) with susceptibility to sinopulmonary infections,
impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia, and a
predisposition to malignancy.