| Literature DB >> 11391347 |
N Tangsinmankong1, A S Wayne, M S Howenstine, K R Washington, C Langston, R A Gatti, R A Good, R P Nelson.
Abstract
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 not characteristic of ataxia-telangiectasia. There was a therapeutic response to glucocorticosteroid treatment.Entities:
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Year: 2001 PMID： 11391347 DOI： 10.1067/mpd.2001.113356
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406