Microbiological surveillance in lung disease in ataxia telangiectasia.

Ataxia telangiectasia is a progressive, neurodegenerative disease causing immunodeficiency, an increased risk of malignancy and respiratory disease, such as chronic sinopulmonary infection, aspiration, bronchiectasis and interstitial lung disease. The leading causes of premature death in ataxia telangiectasia are cancer and respiratory disease [1]. Published recommendations about management of pulmonary problems in ataxia telangiectasia are based on extrapolation from other conditions, which highlights the gaps in the understanding of this rare disease. Little is known about airway infections in ataxia telangiectasia [2]. Previous work has described retrospective data sets from single small clinics [3] or review of medical records in a large series of ataxia telangiectasia patients with chronic respiratory disease [4, 5]. The microbiology in these patients was found to be unlike that of any other primary immune deficiencies and had more similarities to that seen in patients with cystic fibrosis. In cystic fibrosis, it has been long recognised that the organisms infecting the lower airway will determine treatment, quality of life, prospects for transplantation and overall survival. The accurate and prompt identification of respiratory pathogens is essential for ensuring timely commencement of eradication treatment for early infection with bacterial pathogens, the use of appropriate long-term and rescue antibiotics for those with chronic bacterial infection, and the application of appropriate infection control measures [6]. Hence, microbiological surveillance is standard practice in cystic fibrosis clinics internationally. In patients with other primary immunodeficiencies, proactive treatment with immunoglobulin replacement therapy and broad-spectrum antibiotics prevents the development of bronchiectasis and alters the natural course of respiratory disease [7]. A state of the art document [2] recognises that future research in ataxia telangiectasia should address the identification of common organisms associated with sinopulmonary infections in ataxia telangiectasia and the incidence of bacterial airway colonisation in these patients.