<p>This project aims at characterizing the human host susceptibility to pulmonary non-tuberculous mycobacterial (PNTM) infections. PNTM infections occur in patients with chronic lung disease, but also in a distinct group of elderly women without lung defects but who share a common body morphology: tall and lean with scoliosis, pectus excavatum, and mitral valve prolapse. We performed whole exome and genome sequencing in extended families of patients with active PNTM. This unique collection of familial cohorts in PNTM represents an important opportunity for a high yield search for genes that regulate mucosal immunity. We also sequenced the genome of mycobacterial isolates from PNTM patients to integrate host PNTM susceptibility with mycobacterial genotypes and gain insights into the key factors involved in this devastating disease.</p>

Genetic Basis of Pulmonary Non-tuberculous Mycobacterial Infections

2 selected publications including "Pulmonary nontuberculous mycobacterial disease: prospective study of a..." (412 citations)

Genetic Basis of Pulmonary Non-tuberculous Mycobacterial Infections

Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.

Familial clustering of pulmonary nontuberculous mycobacterial disease.