Journal
INTERNATIONAL JOURNAL OF TUBERCULOSIS AND LUNG DISEASE
Volume 16, Issue 4, Pages 561-563Publisher
INT UNION AGAINST TUBERCULOSIS LUNG DISEASE (I U A T L D)
DOI: 10.5588/ijtld.11.0301
Keywords
atypical mycobacterial; Mycobacterium avium complex; human fibrillin 2 (congenital contracrural arachnodactyly) protein; fibrillin
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Funding
- Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health
- National Cancer Institute, National Institutes of Health [HHSN261200800001E]
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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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