Frequency of Bronchiectasis Related Variants in an Idiopathic Pulmonary Nontuberculous Mycobacteria (PNTM) Population in the National Institute of Allergy and Infectious Disease (NIAID) Centralized Sequencing Initiative

Kumar, K.; Similuk, Morgan; Walkiewicz, Marzena; Namkoong, Ho; Oler, Andrew J.; Veltri, D.; Kenneth, O.

doi:10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4493

Cited by 1 publication

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“…Additional evidence about the associations between connective tissue diseases, ciliopathies, and nontuberculous mycobacterial infections is provided by whole exome sequencing from patients with pulmonary nontuberculous mycobacterial disease. A large proportion of these patients have mutations in both cilia and connective tissue genes, much higher than in a control of individuals without the disease [100,101].…”

Section: Bronchiectasis and Nontuberculous Mycobacteriamentioning

confidence: 97%

Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis

Retuerto-Guerrero,

López-Medrano,

de Freitas-González

et al. 2024

Microorganisms

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Nontuberculous mycobacteria (NTM) are environmental and ubiquitous, but only a few species are associated with disease, often presented as nodular/bronchiectatic or cavitary pulmonary forms. Bronchiectasis, airways dilatations characterized by chronic productive cough, is the main presentation of NTM pulmonary disease. The current Cole’s vicious circle model for bronchiectasis proposes that it progresses from a damaging insult, such as pneumonia, that affects the respiratory epithelium and compromises mucociliary clearance mechanisms, allowing microorganisms to colonize the airways. An important bronchiectasis risk factor is primary ciliary dyskinesia, but other ciliopathies, such as those associated with connective tissue diseases, also seem to facilitate bronchiectasis, as may occur in Lady Windermere syndrome, caused by M. avium infection. Inhaled NTM may become part of the lung microbiome. If the dose is too large, they may grow excessively as a biofilm and lead to disease. The incidence of NTM pulmonary disease has increased in the last two decades, which may have influenced the parallel increase in bronchiectasis incidence. We propose that ciliary dyskinesia is the main promoter of bronchiectasis, and that the bacteria most frequently involved are NTM. Restoration of ciliary function and impairment of mycobacterial biofilm formation may provide effective therapeutic alternatives to antibiotics.

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Section: Bronchiectasis and Nontuberculous Mycobacteriamentioning

confidence: 97%