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The Application of Clinical Genetics Volume 4, 2011 - Issue
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Review

Alpha1-antitrypsin deficiency: a clinical-genetic overview

Raja T Abboud1 Department of Medicine, Respiratory Division, University of British Columbia, Vancouver, BC, CanadaCorrespondence[email protected]
,
Tanya N Nelson2 Department of Pathology and Laboratory Medicine, Children’s and Women’s Health Centre of British Columbia, University of British Columbia, Vancouver, BC, Canada
,
Benjamin Jung2 Department of Pathology and Laboratory Medicine, Children’s and Women’s Health Centre of British Columbia, University of British Columbia, Vancouver, BC, Canada
&
Andre Mattman3 Department of Pathology and Laboratory Medicine, St. Paul’s Hospital, University of British Columbia, Vancouver, BC, Canada
Pages 55-65 | Published online: 31 Mar 2011

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Mark Quinn, Paul Ellis, Anita Pye & Alice M Turner. (2020) Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives. Therapeutics and Clinical Risk Management 16, pages 1243-1255.
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Michael J. Hughes, Elizabeth Sapey & Robert Stockley. (2019) Neutrophil phenotypes in chronic lung disease. Expert Review of Respiratory Medicine 13:10, pages 951-967.
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Kenneth R Chapman, Joanna Chorostowska-Wynimko, A Rembert Koczulla, Ilaria Ferrarotti & Noel G McElvaney. (2018) Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications. International Journal of Chronic Obstructive Pulmonary Disease 13, pages 419-432.
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Articles from other publishers (22)

Kuniaki Seyama, Masaru Suzuki, Sadatomo Tasaka, Toshihiro Nukiwa, Tadashi Sato, Satoshi Konno, Susan Sorrells, Junliang Chen, Maria Esperança Aragonés & Hitoshi Minamino. (2022) Long-term safety of Prolastin®-C, an alpha1-proteinase inhibitor, in Japanese patients with alpha1-antitrypsin deficiency. Respiratory Investigation 60:6, pages 831-839.
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Michael E. O’Brien, Grace Murray, Debananda Gogoi, Azeez Yusuf, Cormac McCarthy, Mark R. Wormald, Michelle Casey, Claudie Gabillard-Lefort, Noel G. McElvaney & Emer P. Reeves. (2022) A Review of Alpha-1 Antitrypsin Binding Partners for Immune Regulation and Potential Therapeutic Application. International Journal of Molecular Sciences 23:5, pages 2441.
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Julie Riis, Børge G. Nordestgaard & Shoaib Afzal. (2022) α1‐Antitrypsin Z allele and risk of venous thromboembolism in the general population. Journal of Thrombosis and Haemostasis 20:1, pages 115-125.
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Lauren M. Forgrave, Meng Wang, David Yang & Mari L. DeMarco. (2022) Proteoforms and their expanding role in laboratory medicine. Practical Laboratory Medicine 28, pages e00260.
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Laura T. Fee, Debananda Gogoi, Michael E. O’Brien, Emer McHugh, Michelle Casey, Ciara Gough, Mark Murphy, Ann M. Hopkins, Tomás P. Carroll, Noel G. McElvaney & Emer P. Reeves. (2021) C3d Elicits Neutrophil Degranulation and Decreases Endothelial Cell Migration, with Implications for Patients with Alpha-1 Antitrypsin Deficiency. Biomedicines 9:12, pages 1925.
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Padraig Hawkins, Julian Sya, Nee Kee Hup, Mark P. Murphy, Noel G. McElvaney & Emer P. Reeves. (2021) Alpha-1 Antitrypsin Augmentation Inhibits Proteolysis of Neutrophil Membrane Voltage-Gated Proton Channel-1 in Alpha-1 Deficient Individuals. Medicina 57:8, pages 814.
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Saul J. Karpen, Binita M. Kamath, John J. Alexander, Ilia Ichetovkin, Philip Rosenthal, Ronald J. Sokol, Shelley Dunn, Richard J. Thompson & James E. Heubi. (2021) Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults. Journal of Pediatric Gastroenterology & Nutrition 72:5, pages 654-660.
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Sangmi S. Park, Romy Rodriguez Ortega, Christina W. Agudelo, Jessica Perez Perez, Brais Perez Gandara, Itsaso Garcia-Arcos, Cormac McCarthy & Patrick Geraghty. (2021) Therapeutic Potential of Alpha-1 Antitrypsin in Type 1 and Type 2 Diabetes Mellitus. Medicina 57:4, pages 397.
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Anna Annunziata, Ilaria Ferrarotti, Antonietta Coppola, Maurizia Lanza, Pasquale Imitazione, Sara Spinelli, Pierpaolo Di Micco & Giuseppe Fiorentino. (2021) Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy. Journal of Clinical Medicine 10:8, pages 1546.
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Andre Mattman, Brian M. Gilfix, Sharon Xuehui Chen, Mari L. DeMarco, Barry D. Kyle, Michelle L. Parker, Terence A. Agbor, Benjamin Jung, Shamini Selvarajah, Vilte E. Barakauskas, Andrea K. Vaags, Mathew P. Estey, Tanya N. Nelson & Marsha D. Speevak. (2020) Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison. Clinical Biochemistry 81, pages 27-33.
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Margarita Y. Pervakova, Alexandra V. Mazing, Sergey V. Lapin, Olga Y. Tkachenko, Anna I. Budkova, Elena A. Surkova, Vladimir L. Emanuel & Olga N. Titova. (2020) High Serum Level of IL-17 in Patients with Chronic Obstructive Pulmonary Disease and the Alpha-1 Antitrypsin PiZ Allele. Pulmonary Medicine 2020, pages 1-6.
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Carolin Lackner & Alexander S. Knisely. 2020. Pathologie. Pathologie 63 116 .
Emily A. Schonfeld & Robert S. BrownJr.Jr.. (2019) Genetic Causes of Liver Disease. Medical Clinics of North America 103:6, pages 991-1003.
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Reto Eggenschwiler, Atanas Patronov, Jan Hegermann, Mariane Fráguas-Eggenschwiler, Guangming Wu, Leon Cortnumme, Matthias Ochs, Iris Antes & Tobias Cantz. (2019) A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants. Scientific Reports 9:1.
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Aysel ÜNLÜSOY AKSU. (2019) Alfa 1 Antitripsin Eksikliği Olan Çocukların Karaciğer Tutulumları ve Genetik Özellikleri. Turkish Journal of Pediatric Disease, pages 1-5.
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Kuniaki Seyama, Toshihiro Nukiwa, Tadashi Sato, Masaru Suzuki, Satoshi Konno, Kazuhisa Takahashi, Masaharu Nishimura, Kimberly Steinmann, Susan Sorrells, Junliang Chen & Ken-ichi Hayashi. (2019) Safety and pharmacokinetics of Alpha-1 MP (Prolastin®-C) in Japanese patients with alpha1-antitrypsin (AAT) deficiency. Respiratory Investigation 57:1, pages 89-96.
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Mikael Bjursell, Michelle J. Porritt, Elke Ericson, Amir Taheri-Ghahfarokhi, Maryam Clausen, Lisa Magnusson, Therese Admyre, Roberto Nitsch, Lorenz Mayr, Leif Aasehaug, Frank Seeliger, Marcello Maresca, Mohammad Bohlooly-Y & John Wiseman. (2018) Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype. EBioMedicine 29, pages 104-111.
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Asger Reinstrup Bihlet, Morten Asser Karsdal, Jannie Marie Bülow Sand, Diana Julie Leeming, Mustimbo Roberts, Wendy White & Russell Bowler. (2017) Biomarkers of extracellular matrix turnover are associated with emphysema and eosinophilic-bronchitis in COPD. Respiratory Research 18:1.
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Emily A. Schonfeld & Robert S. BrownJr.Jr.. (2017) Genetic Testing in Liver Disease. Clinics in Liver Disease 21:4, pages 673-686.
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Rubén Peña-Vélez & Enory Almanza-Miranda. (2017) Hepatitis autoinmune en la edad pediátrica. Boletín Médico del Hospital Infantil de México 74:5, pages 324-333.
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Karine Nouette-Gaulain & Florian Robin. (2017) Toxicité des anesthésiques locaux. Anesthésie & Réanimation 3:2, pages 156-167.
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Shing H. Zhan, Raja T. Abboud, Benjamin Jung, Brian Kuchinka, Diana Ralston, Brett Casey & Andre Mattman. (2012) Sanger sequencing solved a cryptic case of severe alpha1-antitrypsin deficiency. Clinical Biochemistry 45:6, pages 499-501.
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