SERPINA1
|
0.480 |
Biomarker
|
disease |
BEFREE |
We did not find any significant difference in age, smoking load, FEV1, or the presence of bronchiectasis between the groups with a normal and a reduced A1AT dosage, neither for 1 nor 2-allele mutation for A1ATD.
|
30517339 |
2019 |
SERPINA1
|
0.480 |
Biomarker
|
disease |
BEFREE |
<b>Rationale:</b> The association between non-tuberculous mycobacterial lung disease and alpha-1-antitrypsin (AAT) deficiency is likely due, in part, to underlying emphysema or bronchiectasis.
|
31293581 |
2019 |
SERPINA1
|
0.480 |
AlteredExpression
|
disease |
BEFREE |
We report a case of a 52-year-old woman with bronchiectasis without other potential causes other than an electrophoresis that showed a decrease of alpha-1 globin band and AAT levels below the normal value (78 mg/dl; v.n.90-200 mg/dl).
|
28668972 |
2017 |
SERPINA1
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.
|
26005342 |
2015 |
SERPINA1
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
For the SERPINA1 gene a statistically significant difference in the frequency was found for heterozygotes for p.V213A between DB patients and healthy smokers (44.1% vs. 26.4% respectively; p=0.035) and for heterozygotes for c.1237G>A between DB patients and general population subjects (10.2% vs. 25.4% respectively; p=0.023).
|
19747908 |
2010 |
SERPINA1
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Larger studies will be required to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility to bronchiectasis in patients with antibody deficiency.
|
17237579 |
2006 |
SERPINA1
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Bronchiectasis is also a feature associated with emphysematous changes of the lung in alpha-1 antitrypsin (AAT) deficiency, a serious and relatively common disease, affecting 1 : 2000 in the United Kingdom.
|
12452840 |
2002 |
SERPINA1
|
0.480 |
Biomarker
|
disease |
BEFREE |
Our results do not support a physiopathologic implication of the AAT genes in the development of bronchiectasis.
|
10669684 |
2000 |
SERPINA1
|
0.480 |
Biomarker
|
disease |
CTD_human |
Bronchiectasis must be considered part of the spectrum of the pulmonary pathology that may be encountered in individuals with alpha 1-antitrypsin deficiency.
|
7785020 |
1995 |
SERPINA1
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
|
|
|