期刊
JOURNAL OF PEDIATRICS
卷 138, 期 6, 页码 939-941出版社
MOSBY-ELSEVIER
DOI: 10.1067/mpd.2001.113356
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An 8-year-old girl developed ataxia-telangiectasia. Western blotting of lysate revealed absence of the ATM protein, and 2 mutations in the ATM gene were found. Subsequently, the patient developed increased respiratory symptoms. Open lung biopsy revealed lymphocytic interstitial pneumonitis, which is nut characteristic of ataxia-telangiectasia. There was a therapeutic response to glucocorticosteroid treatment.
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