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Alpha-1 antitrypsin deficiency

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest Level of Evidence Only (35)Meta-analysis (8)Treatment guideline (5)Phase 3 study (8)Randomized trial (8)Systematic review (6)Clinical Trial (169)Review article (176)Early study (phase 1 or 2) (18)Case report (114)Laboratory or animal study (26)Commentary or editorial (90)Retracted publication (1) Only studies currently recruiting participants (28)

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Publications and studies (1172)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency in an Elderly Patient. (2026/04/28) ♡
• The polymerized protein response (PPR) is activated by genetic variants that polymerize in the ER and is mediated by NFκBp50. (2026/04/27) ♡
• AT2-intrinsic Z-AAT expression drives conserved inflammatory and proteotoxic stress responses and predisposes to emphysema. (2026/04/08) ♡
• Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications. (2026/04/08) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Multi-Society Expert Panel Consensus Guidance Regarding Clinical Assessment and Clinical Trial Endpoints in Adults With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease. (2026/04/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment. (2026/04/01) ♡
• Alpha-1 Antitrypsin Deficiency in Patients With Cirrhosis in a US National Cohort. (2026/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Pseudomonas liver abscess in a previously healthy child with homozygous pathogenic S allele variant of the SERPINA1 gene. (2026/03/27) ♡
• Adaptive Regulation of mTOR Activity by AMPK, Akt, and ATF6 Pathways in Pi*Z Alpha-1 Antitrypsin Deficient Hepatocytes. (2026/03/27) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Alpha-1 Antitrypsin Deficiency-Associated Chronic Obstructive Pulmonary Disease. (2026/03/27) ♡
• From Birth to Midlife-Liver Function, Fibrosis and Mortality in Individuals with Severe Alpha-1-Antitrypsin Deficiency Identified by Neonatal Screening. (2026/03/27) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Successful Obstetric Outcome in a Woman with Prior Kasai Procedure for Biliary Atresia and Concurrent Alpha-1 Antitrypsin Deficiency: A Case Report. (2026/03/26) ♡
• Severe Obesity and Alpha-1 Antitrypsin Deficiency-Associated COPD: A Dual Burden on Health and Quality of Life. (2026/03/25) ♡
• Severe α(1)-Antitrypsin Deficiency and Increased Risk of Gastrointestinal Diseases. (2026/03/25) ♡
• Liver Transplantation Reduces the Rate of Lung Function Decline in Severe Alpha-1-Antitrypsin Deficiency: A Case-Control Analysis. (2026/03/25) ♡
• Regenerative Nodule as a Diagnostic Dilemma in the Neonate With Acute Liver Failure and a Focal Liver Lesion. (2026/03/19) ♡
• Optimising pulmonary rehabilitation for α(1)-antitrypsin deficiency: a qualitative study of patient and clinician perspectives. (2026/03/09) ♡
• Novel mutation (M(angera)-E288V) in alpha-1 antitrypsin deficiency. (2026/03/06) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency. (2026/03/04) ♡
• Alpha-1 antitrypsin deficiency: A persistently underrecognized condition. (2026/03/02) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Percutaneous Microwave Ablation of Hepatocellular Carcinoma As Bridge-to-Transplant Therapy in a High-Risk Patient With Alpha-1 Antitrypsin Deficiency and Factor V Leiden Mutation: A Case Report. (2026/03/02) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lung transplantation for chronic obstructive pulmonary disease patients: an overview. (2026/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neonatal-Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha-1 Antitrypsin Deficiency. (2026/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Extensive Colonic Pseudopolyposis Leading to Protein-Losing Enteropathy and Severe Hypoalbuminemia With Refractory Ulcerative Colitis. (2026/02/25) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Alpha-1 Antitrypsin Deficiency Beyond COPD and Emphysema: A Narrative Review. (2026/02/22) ♡
• Radiomic profiling of chest CT in a cohort of sarcoidosis cases. (2026/02/18) ♡
• Rapid design and production of Alpha-1 antitrypsin fusion proteins in a plant-based cell-free expression system. (2026/02/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations. (2026/02/13) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Bronchiectasis in severe α(1)-antitrypsin deficiency: lessons for the pulmonologist. (2026/02/09) ♡
• Characteristics of bronchiectasis in patients with different genotypes of severe α(1)-antitrypsin deficiency from the EARCO registry. (2026/02/09) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Isolated GGT elevation in prolonged neonatal jaundice: detection of heterozygous alpha-1 antitrypsin deficiency. (2026/02/02) ♡
• Increased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study. (2026/02/01) ♡
• A state of the union on alpha-1 antitrypsin deficiency at the Veterans Health Administration. (2026/02/01) ♡
• Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency. (2026/01/30) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Advances in Precision Editing Therapies for Alpha-1 Antitrypsin Deficiency. (2026/01/26) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Alpha-1 antitrypsin deficiency and cardiovascular disease: a review. (2026/01/24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Alpha-1 antitrypsin deficiency in bronchiectasis: Evidence for an overlooked entity beyond COPD: A retrospective observational study. (2026/01/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Robotic-assisted Left Pneumonectomy For Vanishing Lung Syndrome. (2026/01/23) ♡
• Stretching the diagnosis: tracheobronchomegaly in alpha-1 antitrypsin deficiency or coexisting Mounier-Kuhn syndrome? (2026/01/20) ♡
• A guide to selecting high-performing antibodies for Alpha-1-antitrypsin (UniProt ID: P01009) for use in western blot, immunoprecipitation and flow cytometry. (2026/01/19) ♡
• RNA editing for the treatment of alpha-1 antitrypsin deficiency. (2026/01/14) ♡
• COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden. (2026/01/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The absence of the alpha-1 band in serum protein electrophoresis as a clue to diagnosis of alpha-1 antitrypsin deficiency panniculitis. (2026/01/10) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Pulmonary Function Decline in Alpha-1 Antitrypsin Deficiency: A Systematic Review and Meta-Analysis. (2026/01/09) ♡
• Development and Validation of an Electronic Health Record Algorithm to Predict the Presence of Chronic Obstructive Pulmonary Disease. (2026/01/06) ♡
• Alpha-1 antitrypsin Pi*MZ variant increases the risk of liver disease progression in MASLD and MASH. (2026/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Routine Blood Biomarkers and Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency from the EARCO Registry. (2026/01/01) ♡
• Development of a chemically modified recombinant α1-antitrypsin mutant expressed in E. coli for therapeutic applications. (2026/01/01) ♡
• Advances in orphan drug development for alpha-1 antitrypsin deficiency: a 2025 update from the FDA and EMA. (2026/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Spontaneous pneumothorax associated with genetic disorders. (2026/01/01) ♡

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