Article ; Online: Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0
2024 Volume 24, Issue 1, Page(s) 91
Abstract: Background: Alpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil elastase in lung tissue. AAT deficiency (AATD) is a rare disorder usually arising from mutations to the ... ...
Abstract | Background: Alpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil elastase in lung tissue. AAT deficiency (AATD) is a rare disorder usually arising from mutations to the SERPINA1 gene that codes for AAT. The most common AATD alleles are S and Z which produce ~ 40% and ~ 90% reductions in serum AAT, respectively. Rare genetic variants (> 500 identified) can also be associated with mild to severe AATD. Results: This report describes a novel mutation of SERPINA1 producing AATD, which we have designated, Q0 Conclusions: Although many SERPINA1 variants have been identified, variants with large deletions and identified in a homozygous individual, as seen in this case with Q0 |
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MeSH term(s) | Female ; Humans ; Adult ; alpha 1-Antitrypsin Deficiency/diagnosis ; alpha 1-Antitrypsin Deficiency/genetics ; alpha 1-Antitrypsin Deficiency/complications ; Homozygote ; Turkey ; Sequence Deletion ; alpha 1-Antitrypsin/genetics ; Lung/diagnostic imaging |
Chemical Substances | alpha 1-Antitrypsin |
Language | English |
Publishing date | 2024-02-21 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ZDB-ID | 2059871-3 |
ISSN | 1471-2466 ; 1471-2466 |
ISSN (online) | 1471-2466 |
ISSN | 1471-2466 |
DOI | 10.1186/s12890-024-02900-6 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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