Evaluation and management of pulmonary disease in ataxia‐telangiectasia

Abstract excerpt

SUMMARY: 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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cystic Fibrosis Research Advances
• Share to DNA Repair Mechanisms
• Share to Protist diversity and phylogeny