Quantification of circulating alpha-1-antitrypsin polymers associated with different
AAT rare variants
alpha-1-antitrypsin deficiency
emphysema
serpins
Journal
Clinical chemistry and laboratory medicine
ISSN: 1437-4331
Titre abrégé: Clin Chem Lab Med
Pays: Germany
ID NLM: 9806306
Informations de publication
Date de publication:
27 Feb 2024
27 Feb 2024
Historique:
received:
24
11
2023
accepted:
15
02
2024
medline:
26
2
2024
pubmed:
26
2
2024
entrez:
26
2
2024
Statut:
aheadofprint
Résumé
Alpha-1-antitrypsin deficiency is a genetic disorder caused by mutations in the CP concentration was measured in plasma or Dried Blood Spot (DBS) by a sensitive sandwich ELISA based on capture by the polymer-specific 2C1 monoclonal antibody. CP were significantly elevated in patients with the prevalent PI*SZ and PI*ZZ genotypes, with considerable intra-genotype variability. Notably, higher percentage of polymers was observed in association with elevated C-reactive protein. CP levels were also increased in carriers of the M These findings highlight the importance of implementing CP quantification in a clinical laboratory. Indeed, the variable amount of CP in patients with the same genotype may correlate with the variable severity of the associated lung and liver diseases. Moreover, CP can reveal the polymerogenic potential of newly discovered ultrarare AAT variants.
Identifiants
pubmed: 38407261
pii: cclm-2023-1348
doi: 10.1515/cclm-2023-1348
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Walter de Gruyter GmbH, Berlin/Boston.
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