Research & Literature

Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective.

Craig TJ

The journal of allergy and clinical immunology. In practice 2015; (3(4)):506-11.

Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele.

Oliveira MJ, Seixas S, Ladeira I, et al.

Revista portuguesa de pneumologia 2015; doi:10.1016/j.rppnen.2015.07.002.

Alpha-1 Antitrypsin Therapy in Cystic Fibrosis and the Lung Disease Associated with Alpha-1 Antitrypsin Deficiency.

McElvaney NG

Annals of the American Thoracic Society 2016; (13 Suppl 2()):S191-6 doi:10.1513/AnnalsATS.201504-245KV.

The Role of Neutrophils in Alpha-1 Antitrypsin Deficiency.

McCarthy C, Reeves EP, McElvaney NG

Annals of the American Thoracic Society 2016; (13 Suppl 4()):S297-304 doi:10.1513/AnnalsATS.201509-634KV.

Detecting Alpha-1 Antitrypsin Deficiency.

Stoller JK

Annals of the American Thoracic Society 2016; (13 Suppl 4()):S317-25 doi:10.1513/AnnalsATS.201506-349KV.

Randomized, Placebo-Controlled Trials in Alpha-1 Antitrypsin Deficiency.

Sandhaus RA

Annals of the American Thoracic Society 2016; (13 Suppl 4()):S370-3 doi:10.1513/AnnalsATS.201510-684KV.

Recent advances in understanding and treating COPD related to α1-antitrypsin deficiency.

Henao MP, Craig TJ

Expert review of respiratory medicine 2016; (10(12)):1281-1294 doi:10.1080/17476348.2016.1249851.

SVIP regulates Z variant alpha-1 antitrypsin retro-translocation by inhibiting ubiquitin ligase gp78.

Khodayari N, Wang RL, Marek G, et al.

PloS one 2017; (12(3)):e0172983 doi:10.1371/journal.pone.0172983.

Alpha-1-Antitrypsin Deficiency: Disease Management and Learning from Studies.

Greulich T

COPD 2017; (14(sup1)):S8-S11 doi:10.1080/15412555.2017.1286166.

An Epidemiological Overview of Chronic Obstructive Pulmonary Disease: What Can Real-Life Data Tell Us about Disease Management?

Soriano JB

COPD 2017; (14(sup1)):S3-S7 doi:10.1080/15412555.2017.1286165.

Alpha-1 Antitrypsin PiMZ Genotype Is Associated with Chronic Obstructive Pulmonary Disease in Two Racial Groups.

Foreman MG, Wilson C, DeMeo DL, et al.

Annals of the American Thoracic Society 2017; (14(8)):1280-1287 doi:10.1513/AnnalsATS.201611-838OC.

Erdj3 Has an Essential Role for Z Variant Alpha-1-Antitrypsin Degradation.

Khodayari N, Marek G, Lu Y, et al.

Journal of cellular biochemistry 2017; (118(10)):3090-3101 doi:10.1002/jcb.26069.

Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.

Rahaghi FF, Miravitlles M

Respiratory research 2017; (18(1)):105 doi:10.1186/s12931-017-0574-1.

Pathophysiology of Alpha-1 Antitrypsin Lung Disease.

Kalfopoulos M, Wetmore K, ElMallah MK

Methods in molecular biology (Clifton, N.J.) 2017; (1639()):9-19 doi:10.1007/978-1-4939-7163-3_2.

The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.

Sandhaus RA, Turino G, Brantly ML, et al.

Chronic obstructive pulmonary diseases (Miami, Fla.) 2016; (3(3)):668-682 doi:10.15326/jcopdf.3.3.2015.0182.

The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency.

Lascano JE, Campos MA

Postgraduate medicine 2017; (129(8)):889-895 doi:10.1080/00325481.2017.1381539.

The Role of Computed Tomography for the Evaluation of Lung Disease in Alpha-1 Antitrypsin Deficiency.

Campos MA, Diaz AA

Chest 2018; (153(5)):1240-1248 doi:10.1016/j.chest.2017.11.017.

Intensive smoking diminishes the differences in quality of life and exacerbation frequency between the alpha-1-antitrypsin deficiency genotypes PiZZ and PiSZ.

Bernhard N, Lepper PM, Vogelmeier C, et al.

Respiratory medicine 2017; (130()):1-8 doi:10.1016/j.rmed.2017.07.004.

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications.

Chapman KR, Chorostowska-Wynimko J, Koczulla AR, et al.

International journal of chronic obstructive pulmonary disease 2018; (13()):419-432 doi:10.2147/COPD.S149429.

Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease.

Townsend SA, Edgar RG, Ellis PR, et al.

Alimentary pharmacology & therapeutics 2018; (47(7)):877-885 doi:10.1111/apt.14537.

Alpha-1 antitrypsin deficiency: outstanding questions and future directions.

Torres-Durán M, Lopez-Campos JL, Barrecheguren M, et al.

Orphanet journal of rare diseases 2018; (13(1)):114 doi:10.1186/s13023-018-0856-9.

[Longterm Homecare Augmentation Program in Alpha-1-Antitrypsin Deficient Patients].

Wilke A, Semper H, Gross C, Grohé C

Pneumologie (Stuttgart, Germany) 2018; (72(8)):590-597 doi:10.1055/a-0618-7493.

Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort.

Clark VC, Marek G, Liu C, et al.

Journal of hepatology 2018; (69(6)):1357-1364 doi:10.1016/j.jhep.2018.08.005.

Surgery for patients with Alpha 1 Antitrypsin Deficiency: A review.

Zamora M

American journal of surgery 2019; (218(3)):639-647 doi:10.1016/j.amjsurg.2018.10.019.

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.

Lopes AP, Mineiro MA, Costa F, et al.

Pulmonology 2018; (24 Suppl 1()):1-21 doi:10.1016/j.pulmoe.2018.09.004.

An unusual case of alpha-1-antitrypsin deficiency: SZ/Z.

Speevak MD, DeMarco ML, Wiebe NS, Chapman KR

Clinical biochemistry 2019; (64()):49-52 doi:10.1016/j.clinbiochem.2018.12.008.

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

da Costa CH, Noronha Filho AJ, Marques E Silva RMF, et al.

BMC research notes 2019; (12(1)):10 doi:10.1186/s13104-018-4043-9.

Intrapleural Gene Therapy for Alpha-1 Antitrypsin Deficiency-Related Lung Disease.

Stiles KM, Sondhi D, Kaminsky SM, et al.

Chronic obstructive pulmonary diseases (Miami, Fla.) 2018; (5(4)):244-257 doi:10.15326/jcopdf.5.4.2017.0160.

Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery.

Kaserman JE, Wilson AA

Chronic obstructive pulmonary diseases (Miami, Fla.) 2018; (5(4)):258-266 doi:10.15326/jcopdf.5.4.2017.0179.

Emphysema: looking beyond alpha-1 antitrypsin deficiency.

Janssen R, Piscaer I, Franssen FME, Wouters EFM

Expert review of respiratory medicine 2019; (13(4)):381-397 doi:10.1080/17476348.2019.1580575.

Intravenous Alpha-1 Antitrypsin Therapy for Alpha-1 Antitrypsin Deficiency: The Current State of the Evidence.

Brantly ML, Lascano JE, Shahmohammadi A

Chronic obstructive pulmonary diseases (Miami, Fla.) 2018; (6(1)):100-114 doi:10.15326/jcopdf.6.1.2017.0185.

A Stress Buffering Perspective on the Progression of Alpha-1 Antitrypsin Deficiency.

Tian X, Solomon DH, Smith RA

Health communication 2020; (35(6)):747-755 doi:10.1080/10410236.2019.1584782.

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: The Association Between Diagnostic Delay and Worsened Clinical Status.

Tejwani V, Nowacki AS, Fye E, et al.

Respiratory care 2019; (64(8)):915-922 doi:10.4187/respcare.06555.

Alpha-1 Antitrypsin Replacement in Patients With COPD.

Wells AD, Woods A, Hilleman DE, Malesker MA

P & T : a peer-reviewed journal for formulary management 2019; (44(7)):412-415.

Anxiety and depression in patients with alpha-1 antitrypsin deficiency: current insights and impact on quality of life.

Beiko T, Strange C

Therapeutics and clinical risk management 2019; (15()):959-964 doi:10.2147/TCRM.S175369.

Experimental and investigational drugs for the treatment of alpha-1 antitrypsin deficiency.

Pye A, Turner AM

Expert opinion on investigational drugs 2019; (28(10)):891-902 doi:10.1080/13543784.2019.1672656.

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study.

Cakir M, Sag E, Islek A, et al.

Pediatric gastroenterology, hepatology & nutrition 2020; (23(2)):146-153 doi:10.5223/pghn.2020.23.2.146.

Detection of alpha-1 antitrypsin deficiency: the past, present and future.

Brantly M, Campos M, Davis AM, et al.

Orphanet journal of rare diseases 2020; (15(1)):96 doi:10.1186/s13023-020-01352-5.

Alpha-1 Antitrypsin Deficiency: Principles of Care.

Rodrigues JF, Mineiro A, Reis A, et al.

Acta medica portuguesa 2020; (33(6)):433-439 doi:10.20344/amp.12950.

Why is Disease Penetration so Variable in Alpha-1 Antitrypsin Deficiency? The Contribution of Environmental Factors.

Rangaraju M, Turner AM

Chronic obstructive pulmonary diseases (Miami, Fla.) 2020; (7(3)):280-289 doi:10.15326/jcopdf.7.3.2019.0177.

The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency.

Miravitlles M, Nuñez A, Torres-Durán M, et al.

COPD 2020; (17(4)):346-354 doi:10.1080/15412555.2020.1795824.

Limitations and Challenges of Conducting Budget Impact Analyses in Rare Diseases: A Case Study of Alpha-1 Antitrypsin Deficiency.

Rueda JD, Sieluk J, Sandhaus RA, Mullins CD

Value in health regional issues 2020; (23()):70-76 doi:10.1016/j.vhri.2020.04.003.

SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ.

Franciosi AN, Carroll TP, McElvaney NG

Thorax 2021; (76(3)):298-301 doi:10.1136/thoraxjnl-2020-215250.

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein.

Lechowicz U, Rudzinski S, Jezela-Stanek A, et al.

International journal of molecular sciences 2020; (21(23)) doi:10.3390/ijms21239187.

Recurrence of emphysema post-lung transplantation in a patient with alpha 1 antitrypsin deficiency (AATD).

Ataya A

Respiratory medicine case reports 2020; (31()):101309 doi:10.1016/j.rmcr.2020.101309.

Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives.

Quinn M, Ellis P, Pye A, Turner AM

Therapeutics and clinical risk management 2020; (16()):1243-1255 doi:10.2147/TCRM.S234377.

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.

Seixas S, Marques PI

The application of clinical genetics 2021; (14()):173-194 doi:10.2147/TACG.S257511.

Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy.

Annunziata A, Ferrarotti I, Coppola A, et al.

Journal of clinical medicine 2021; (10(8)) doi:10.3390/jcm10081546.

Alpha-1 antitrypsin deficiency in the elderly: a case report.

Annunziata A, Lanza M, Coppola A, Fiorentino G

Journal of medical case reports 2021; (15(1)):231 doi:10.1186/s13256-021-02847-w.

Management of lung disease in alpha-1 antitrypsin deficiency: what we do and what we do not know.

Barjaktarevic I, Campos M

Therapeutic advances in chronic disease 2021; (12_suppl()):20406223211010172 doi:10.1177/20406223211010172.

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.

Foil KE

Therapeutic advances in chronic disease 2021; (12_suppl()):20406223211015954 doi:10.1177/20406223211015954.

Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder.

Fromme M, Schneider CV, Trautwein C, et al.

Journal of hepatology 2022; (76(4)):946-958 doi:10.1016/j.jhep.2021.11.022.

The Mechanism of Mitochondrial Injury in Alpha-1 Antitrypsin Deficiency Mediated Liver Disease.

Khodayari N, Wang RL, Oshins R, et al.

International journal of molecular sciences 2021; (22(24)) doi:10.3390/ijms222413255.

Alpha-1 Asthma Overlap Syndrome: a Clinical Overview.

Izquierdo M, Rawal H, Armstrong M, Marion CR

Current allergy and asthma reports 2022; (22(9)):101-111 doi:10.1007/s11882-022-01036-z.

[Alpha 1-antitrypsin deficiency].

Mornex JF

Revue des maladies respiratoires 2022; (39(8)):698-707 doi:10.1016/j.rmr.2022.02.062.

Alpha-1 antitrypsin in autoimmune diseases: Roles and therapeutic prospects.

Sun R, Xu Z, Zhu C, et al.

International immunopharmacology 2022; (110()):109001 doi:10.1016/j.intimp.2022.109001.

Cigarette smoke exposed airway epithelial cell-derived EVs promote pro-inflammatory macrophage activation in alpha-1 antitrypsin deficiency.

Khodayari N, Oshins R, Mehrad B, et al.

Respiratory research 2022; (23(1)):232 doi:10.1186/s12931-022-02161-z.

Small airways disease in patients with alpha-1 antitrypsin deficiency.

Toumpanakis D, Usmani OS

Respiratory medicine 2023; (211()):107222 doi:10.1016/j.rmed.2023.107222.

Practical dietary advices for subjects with alpha-1 antitrypsin deficiency.

Rondanelli M, Gasparri C, Razza C, et al.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2023; (163()):114753 doi:10.1016/j.biopha.2023.114753.

Cleaning up alpha-1 antitrypsin deficiency related liver disease.

Rademacher L, Fromme M, Strnad P

Current opinion in gastroenterology 2023; (39(3)):163-168 doi:10.1097/MOG.0000000000000919.

Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency.

Abreu N, Pereira VM, Pestana M, Jasmins L

GE Portuguese journal of gastroenterology 2023; (30(5)):327-335 doi:10.1159/000528809.

Case report: Self-administration of alpha-1 antitrypsin therapy: a report of two cases.

Escribano Dueñas AM, Martín García M, Tortajada Goitia B, Arenas Villafranca JJ

Frontiers in pharmacology 2023; (14()):1291677 doi:10.3389/fphar.2023.1291677.

Predicting Exacerbations in Alpha-1 Antitrypsin Deficiency Using Clinical and Pulmonary Function Tests: Portuguese EARCO Registry.

Faria N, Gomes J, Guimarães C, et al.

Respiration; international review of thoracic diseases 2024; (103(6)):317-325 doi:10.1159/000537759.

Pulmonary manifestations of alpha 1 antitrypsin deficiency.

Mulkareddy V, Roman J

The American journal of the medical sciences 2024; (368(1)):1-8 doi:10.1016/j.amjms.2024.04.002.

Association of circulating Z-polymer with adverse clinical outcomes and liver fibrosis in adults with alpha-1 antitrypsin deficiency.

Fromme M, Rademacher L, Amzou S, et al.

United European gastroenterology journal 2024; (12(8)):1091-1101 doi:10.1002/ueg2.12629.

Alpha-1 antitripsyn deficiency and augmentation therapy in pregnancy: two case reports.

Annunziata A, Fiorentino G, Coppola A, et al.

Frontiers in medicine 2024; (11()):1479877 doi:10.3389/fmed.2024.1479877.

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.

Perales-Afán JJ, Menao S, García-Gutiérrez A, et al.

Respiratory care 2025; (70(5)):551-558 doi:10.1089/respcare.12524.

Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine.

Fromme M, Klebingat F, Ellis P, Strnad P

Hepatology communications 2025; (9(5)) doi:10.1097/HC9.0000000000000699.

Progression and Augmentation Therapy in PiSZ and PiZZ Alpha-1 Antitrypsin Deficiency: A Longitudinal Functional and Densitometric Study.

Esmaili S, Rodríguez Hermosa JL, Vargas Centanaro G, et al.

Biomolecules 2025; (15(4)) doi:10.3390/biom15040599.

Can Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency?

Grignano MA, D'Amato M, Gregorini M, et al.

International journal of molecular sciences 2025; (26(11)) doi:10.3390/ijms26115085.

Severe alpha-1 antitrypsin deficiency is associated with a higher risk of complications after first decompensation than other aetiologies of cirrhosis.

Balcar L, Fromme M, Kappe N, et al.

JHEP reports : innovation in hepatology 2025; (7(6)):101398 doi:10.1016/j.jhepr.2025.101398.

Fazirsiran for the treatment of alpha-1 antitrypsin deficiency-associated liver disease findings from the SEQUOIA phase 2 trial.

Liaquat T, Malik BT, Hashmi TH, et al.

Annals of medicine and surgery (2012) 2025; (87(7)):4014-4016 doi:10.1097/MS9.0000000000003393.

Multi-Society Expert Panel Consensus Guidance Regarding Clinical Assessment and Clinical Trial Endpoints in Adults With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease.

Loomba R, Clark VC, Mandorfer M, et al.

Gastroenterology 2025; doi:10.1053/j.gastro.2025.12.012.

Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment.

Mawani R, Pye A, Turner AM

Advances in therapy 2026; doi:10.1007/s12325-026-03496-5.