ArticleThe application of clinical genetics2011
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Article in The application of clinical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline.Canadian respiratory journalGuideline
- Clinical Characteristics and Health Care Resource Utilization Among Individuals Undergoing Alpha-1 Antitrypsin Testing in a Quaternary Health System.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2026Article
- Stereo-random oligonucleotides enable efficient recruitment of ADAR in vitro and in vivo.Nature communications · 2025Article
- Exploring the therapeutic potential of nutraceutical compounds (Curcumin, Quercetin, Epa, Zinc, and Vitamin D) in managing Celiac disease: insights from cellular mechanisms.Molecular biology reports · 2025Article
- Unraveling the Serum Protein Landscape in Celiac Disease: Current Evidence and Future Directions.Immunity, inflammation and disease · 2025Review
- Healthcare resource utilization and costs among patients with alpha-1 antitrypsin deficiency with liver and/or lung disease: a longitudinal retrospective study in the USA.Journal of comparative effectiveness research · 2024Article
- Article
- A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation.Respiratory medicine case reports · 2024Article
- A Review of Alpha-1 Antitrypsin Binding Partners for Immune Regulation and Potential Therapeutic Application.International journal of molecular sciences · 2022Review
- Proteoforms and their expanding role in laboratory medicine.Practical laboratory medicine · 2022Review
- C3d Elicits Neutrophil Degranulation and Decreases Endothelial Cell Migration, with Implications for Patients with Alpha-1 Antitrypsin Deficiency.Biomedicines · 2021Article
- Alpha-1 Antitrypsin Augmentation Inhibits Proteolysis of Neutrophil Membrane Voltage-Gated Proton Channel-1 in Alpha-1 Deficient Individuals.Medicina (Kaunas, Lithuania) · 2021Article
- Therapeutic Potential of Alpha-1 Antitrypsin in Type 1 and Type 2 Diabetes Mellitus.Medicina (Kaunas, Lithuania) · 2021Review
- Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy.Journal of clinical medicine · 2021Article
- High Serum Level of IL-17 in Patients with Chronic Obstructive Pulmonary Disease and the Alpha-1 Antitrypsin PiZ Allele.Pulmonary medicine · 2020Article
- Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives.Therapeutics and clinical risk management · 2020Review
- A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants.Scientific reports · 2019Article
- Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype.EBioMedicine · 2018Article
- Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications.International journal of chronic obstructive pulmonary disease · 2018Review
- Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles.Spartan medical research journal · 2017Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe α1-antitrypsin deficiency (AATD) is an inherited disorder, leading to development of emphysema in smokers at a relatively young age with disability in their forties or fifties. The emphysema results from excessive elastin degradation by neutrophil elastase as a result of the severe deficiency of its major inhibitor α1-antitrypsin (AAT). The AAT expression is determined by the SERPINA1 gene which expresses codominant alleles. The three most common alleles are the normal M, the S with plasma levels of 60% of normal, and the severely deficient Z with levels of about 15% of normal. Homozygosity for the Z mutant allele is associated with retention of abnormal AAT in the liver, which may lead to neonatal hepatitis, liver disease in children, and liver disease in adults. Regular intravenous infusions of purified human AAT (AAT augmentation therapy) have been used to partially correct the biochemical defect and protect the lung against further injury. Two randomized controlled trials showed a trend of slower progression of emphysema by chest computerized tomography. Integrated analysis of these two studies indicated significantly slower progression of emphysema. AAT is quantified by immunologic measurement of AAT in serum, the phenotype characterized by isoelectric focusing, the common genotypes by targeted DNA analysis, and by sequencing the coding region of the gene when the AAT abnormality remains undefined. AATD is often unrecognized, and diagnosis delayed. Testing for AATD is recommended in patients with chronic irreversible airflow obstruction, especially in those with early onset of disease or positive family history. Testing is also recommended for immediate family members of those with AATD, asthmatics with persistent airflow obstruction, and infants and older subjects with unexplained liver disease. There are over 100 different AAT gene variants; most are rare and only some are associated with clinical disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.