Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma

Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma va...

Descripción completa

Detalles Bibliográficos
Autores principales: Aiello, Marina, Frizzelli, Annalisa, Marchi, Laura, Ferrarotti, Ilaria, Piloni, Davide, Pelà, Giovanna, De Simoni, Alessandro, D'Aloisio, Lorenzo, Calzetta, Luigino, Chetta, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2022
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008433/
https://www.ncbi.nlm.nih.gov/pubmed/35433011
http://dx.doi.org/10.1002/rcr2.936
_version_ 1784687053693255680
author Aiello, Marina
Frizzelli, Annalisa
Marchi, Laura
Ferrarotti, Ilaria
Piloni, Davide
Pelà, Giovanna
De Simoni, Alessandro
D'Aloisio, Lorenzo
Calzetta, Luigino
Chetta, Alfredo
author_facet Aiello, Marina
Frizzelli, Annalisa
Marchi, Laura
Ferrarotti, Ilaria
Piloni, Davide
Pelà, Giovanna
De Simoni, Alessandro
D'Aloisio, Lorenzo
Calzetta, Luigino
Chetta, Alfredo
author_sort Aiello, Marina
collection PubMed
description Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy
format Online
Article
Text
id pubmed-9008433
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher John Wiley & Sons, Ltd
record_format MEDLINE/PubMed
spelling pubmed-90084332022-04-15 Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma Aiello, Marina Frizzelli, Annalisa Marchi, Laura Ferrarotti, Ilaria Piloni, Davide Pelà, Giovanna De Simoni, Alessandro D'Aloisio, Lorenzo Calzetta, Luigino Chetta, Alfredo Respirol Case Rep Case Series Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy John Wiley & Sons, Ltd 2022-04-14 /pmc/articles/PMC9008433/ /pubmed/35433011 http://dx.doi.org/10.1002/rcr2.936 Text en © 2022 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Series
Aiello, Marina
Frizzelli, Annalisa
Marchi, Laura
Ferrarotti, Ilaria
Piloni, Davide
Pelà, Giovanna
De Simoni, Alessandro
D'Aloisio, Lorenzo
Calzetta, Luigino
Chetta, Alfredo
Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
title Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
title_full Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
title_fullStr Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
title_full_unstemmed Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
title_short Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
title_sort clinical manifestations of a new alpha‐1 antitrypsin genetic variant: q0parma
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008433/
https://www.ncbi.nlm.nih.gov/pubmed/35433011
http://dx.doi.org/10.1002/rcr2.936
work_keys_str_mv AT aiellomarina clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT frizzelliannalisa clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT marchilaura clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT ferrarottiilaria clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT pilonidavide clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT pelagiovanna clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT desimonialessandro clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT daloisiolorenzo clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT calzettaluigino clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma
AT chettaalfredo clinicalmanifestationsofanewalpha1antitrypsingeneticvariantq0parma

Ejemplares similares