Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia

J Pediatr. 2001 Jun;138(6):939-41. doi: 10.1067/mpd.2001.113356.


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.

Publication types

  • Case Reports

MeSH terms

  • Ataxia Telangiectasia / complications*
  • Ataxia Telangiectasia / immunology
  • Child
  • Female
  • Hepatomegaly / etiology*
  • Humans
  • Immunoglobulin M / blood*
  • Lung Diseases, Interstitial / etiology*
  • Splenomegaly / etiology*


  • Immunoglobulin M