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Free Content Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly [Case study]

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Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs. We describe a novel FBN2 mutation in a woman with CCA who also had pulmonary non-tuberculous mycobacteria (NTM) infection. The population with pulmonary NTM infections shares phenotypic features with CCA, such as elongated body habitus, scoliosis and pectus deformities. While it is unlikely that FBN2 defects account for susceptibility to NTM infection in the majority of cases, the overlap between these two diseases suggests some shared pathophysiology.
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Keywords: Mycobacterium avium complex; atypical mycobacterial; fibrillin; human fibrillin 2 (congenital contractural arachnodactyly) protein

Document Type: Research Article

Affiliations: 1: Laboratory of Clinical Infectious Diseases, SAIC–Frederick, Inc. National Cancer Institute–Frederick, Frederick, Maryland, USA 2: Laboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA

Publication date: April 1, 2012

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  • The International Journal of Tuberculosis and Lung Disease publishes articles on all aspects of lung health, including public health-related issues such as training programmes, cost-benefit analysis, legislation, epidemiology, intervention studies and health systems research. The IJTLD is dedicated to the continuing education of physicians and health personnel and the dissemination of information on lung health world-wide.

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