eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Comorbidity | C0006267|bronchiectasis |
| Sentences | 3 |
| PubMedID- 26005342 | Identification of a novel serpina-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism. |
| PubMedID- 20368907 | Patients who received antibiotic or steroid treatment for exacerbation in the 2 months previous to inclusion in the study were excluded, as were patients who had never smoked or had smoked less than 10 pack-years and those with bronchial asthma, cystic fibrosis, bronchiectasis not associated with copd, alpha-1-antitrypsin deficiency, neoplasia, pneumonia, life expectancy of less than 2 years due to a severe concomitant disease, illiterate or unable to complete the sgrq. |
| PubMedID- 21228423 | The gc2 variant predisposed to bronchiectasis in aatd (p=0.04) and protected against copd (p=0.05); the latter association was replicated in usual copd versus controls (p=0.04). |
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