TY - JOUR
T1 - Familial clustering of pulmonary nontuberculous mycobacterial disease
AU - Colombo, Rhonda E.
AU - Hill, Suvimol C.
AU - Claypool, Reginald J.
AU - Holland, Steven M.
AU - Olivier, Kenneth N.
N1 - Funding Information:
Author contributions: Dr Olivier had full access to the data in this study and takes responsibility for the integrity of the data and accuracy of the analysis. Dr Colombo: contributed to conducting the record review, contacting the participants to verify and obtain additional information, analyzing the data, creating the table and figures, and drafting the manuscript. Dr Hill: contributed to reviewing and scoring all the scoliosis films, reviewing and interpreting selected chest CT scans for each patient and available family members, and editing and revising Figure 2 . Mr Claypool: contributed to assisting with data collection and contacting of the probands and selected family members. He provided data for and assisted in the creation of Table 1 and a critical review of the manuscript. Dr Holland: contributed to evaluating many of the patients in this cohort, collecting key family history data that enabled this assessment, and conducting extensive editing and critical review of the manuscript. He is the Principal Investigator of the natural history study under which these patients were evaluated. Dr Olivier: contributed to providing overall guidance for design and data collection, evaluating and collecting family history information from many of the patients included in this study, and critically editing and revising the manuscript, table, and figures. Financial/nonfinancial disclosures: The authors have reported to CHEST that no potential conflicts of interest exist with any companies/organizations whose products or services may be discussed in this article. Other contributions: This work was performed at the Clinical Center of the National Institutes of Health, Bethesda, MD.
PY - 2010/3/1
Y1 - 2010/3/1
N2 - Background: Nontuberculous mycobacteria (NTM) are environmental organisms associated with pulmonary disease without person-to-person transmission. Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined. Methods: Family histories for relevant disease characteristics were obtained as part of an ongoing natural history study. Six families were identified in which at least two blood relatives had pulmonary NTM. A systematic review of medical records extracted data relevant to pulmonary infection and baseline demographics. Data were reconfirmed by telephone interviews. Results: Familial clustering of pulmonary NTM was proven in six families. Four of the families were white, and the majority of affected individuals were women. The average age at diagnosis was 56.4 ± 10.7 years, the average height was 167.5 ± 8.7 cm, and the mean BMI was 22.0 ± 2.98 kg/m2. Scoliosis was present in 31%. Five of 12 patients had cystic fibrosis transmembrane conductance regulator gene variations, but none had classic cystic fibrosis. Infections were caused by both slow and rapid growing mycobacteria, including Mycobacterium avium, Mycobacterium intracellulare, Mycobacterium kansasii, Mycobacterium abscessus, and Mycobacterium massiliense. Family members were typically infected with different species of NTM. Conclusion: We identified six familial clusters of pulmonary NTM infection, suggesting that there are genetic factors contributing to host susceptibility to pulmonary infection with NTM among some individuals with nodular bronchiectatic disease.
AB - Background: Nontuberculous mycobacteria (NTM) are environmental organisms associated with pulmonary disease without person-to-person transmission. Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined. Methods: Family histories for relevant disease characteristics were obtained as part of an ongoing natural history study. Six families were identified in which at least two blood relatives had pulmonary NTM. A systematic review of medical records extracted data relevant to pulmonary infection and baseline demographics. Data were reconfirmed by telephone interviews. Results: Familial clustering of pulmonary NTM was proven in six families. Four of the families were white, and the majority of affected individuals were women. The average age at diagnosis was 56.4 ± 10.7 years, the average height was 167.5 ± 8.7 cm, and the mean BMI was 22.0 ± 2.98 kg/m2. Scoliosis was present in 31%. Five of 12 patients had cystic fibrosis transmembrane conductance regulator gene variations, but none had classic cystic fibrosis. Infections were caused by both slow and rapid growing mycobacteria, including Mycobacterium avium, Mycobacterium intracellulare, Mycobacterium kansasii, Mycobacterium abscessus, and Mycobacterium massiliense. Family members were typically infected with different species of NTM. Conclusion: We identified six familial clusters of pulmonary NTM infection, suggesting that there are genetic factors contributing to host susceptibility to pulmonary infection with NTM among some individuals with nodular bronchiectatic disease.
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U2 - 10.1378/chest.09-1173
DO - 10.1378/chest.09-1173
M3 - Article
C2 - 19858235
AN - SCOPUS:77949506650
VL - 137
SP - 629
EP - 634
JO - Chest
JF - Chest
SN - 0012-3692
IS - 3
ER -