| Autor: |
Paulson ML; Laboratory of Clinical Infectious Diseases, SAIC-Frederick, Inc. National Cancer Institute-Frederick, Frederick, Maryland, USA., Olivier KN, Holland SM |
| Jazyk: |
angličtina |
| Zdroj: |
The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease [Int J Tuberc Lung Dis] 2012 Apr; Vol. 16 (4), pp. 561-3. |
| DOI: |
10.5588/ijtld.11.0301 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
