Evaluation and management of pulmonary disease in ataxia-telangiectasia

Sharon A. McGrath-Morrow, W. Adam Gower, Cynthia Rothblum-Oviatt, Alan S. Brody, Claire Langston, Leland L. Fan, Maureen A. Lefton-Greif, Thomas O. Crawford, Michelle Troche, John T. Sandlund, Paul G. Auwaerter, Blaine Easley, Gerald M. Loughlin, John L. Carroll, Howard M. Lederman

Research output: Contribution to journalReview articlepeer-review

57 Scopus citations


Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined.

Original languageEnglish (US)
Pages (from-to)847-859
Number of pages13
JournalPediatric pulmonology
Issue number9
StatePublished - Sep 2010


  • Ataxia-telangiectasia
  • Evaluation
  • Lung disease
  • Management

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine


Dive into the research topics of 'Evaluation and management of pulmonary disease in ataxia-telangiectasia'. Together they form a unique fingerprint.

Cite this