Vasculitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, the potential effect of Pi*Z, Pi*S as well as other SERPINA1 variants on clinical course of vasculitis are not well understood.
|
29460271 |
2018 |
Vasculitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established.
|
28652721 |
2017 |
Vasculitis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency.
|
25405820 |
2015 |
Vasculitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
GWASs also revealed that polymorphic variants of genes encoding proteinase 3 (PR3), the predominant antigenic target of ANCA in GPA, and its main inhibitor, alpha-1 antitrypsin, are highly associated with GPA and, even more significantly, with PR3-ANCA positivity (regardless of the clinical diagnosis); this emphasizes the central pathogenic role of PR3 and humoral autoimmunity in PR3-ANCA positive vasculitis.
|
25523449 |
2015 |
Vasculitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis (Wegener's granulomatosis).
|
16088434 |
2005 |
Vasculitis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Low AAT serum levels did not correlate with either type/titre of autoantibody or distribution/severity of the vasculitis process.
|
9279535 |
1997 |
Vasculitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele.
|
8671812 |
1996 |
Vasculitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
We consider alpha 1-AT phenotyping to be justified in cases of PR3-ANCA-positive vasculitis.
|
7474674 |
1995 |
Vasculitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To ascertain whether a relationship exists between the PiZ alpha 1-antitrypsin (alpha 1AT) variant and antineutrophil cytoplasm antibodies (ANCA)-positive vasculitis in a large group of Swedish patients, and whether analysis for the presence of the PiZ variant might be useful for diagnostic or prognostic purposes.
|
7964431 |
1994 |
Vasculitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alpha 1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis.
|
8315946 |
1993 |
Vasculitis
|
0.400 |
Biomarker
|
disease |
CTD_human |
This is the third reported case of systemic necrotizing vasculitis in association with alpha-1 antitrypsin deficiency of the PI ZZ type, and the first to show significant response to cyclophosphamide and steroids.
|
1684994 |
1991 |