{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T15:41:58Z","timestamp":1759160518962,"version":"3.37.3"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T00:00:00Z","timestamp":1724544000000},"content-version":"vor","delay-in-days":237,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100016387","name":"Grifols SA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100016387","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Respiratory Medicine Case Reports"],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/j.rmcr.2024.102097","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T01:38:17Z","timestamp":1724809097000},"page":"102097","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Alpha-1 antitrypsin deficiency associated with rare SERPINA1 alleles p.(Phe76del) and p.(Asp280Val): A family study"],"prefix":"10.1016","volume":"51","author":[{"given":"Marc","family":"Lepiorz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julius","family":"Baier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Veith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timm","family":"Greulich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Pfeifer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.rmcr.2024.102097_bib1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.pulmoe.2022.12.007","article-title":"Alpha1-antitrypsin deficiency in Greece: focus on rare variants","volume":"30","author":"Papiris","year":"2024","journal-title":"Pulmonology"},{"issue":"1","key":"10.1016\/j.rmcr.2024.102097_bib2","first-page":"7","article-title":"Novel SERPINA1 alleles identified through a large alpha-1 antitrypsin deficiency screening program and review of known variants","volume":"10","author":"Wiesemann","year":"2023","journal-title":"Chronic Obstr Pulm Dis"},{"key":"10.1016\/j.rmcr.2024.102097_bib3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s13023-015-0350-6","article-title":"Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states","volume":"10","author":"Joly","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.rmcr.2024.102097_bib4","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.rppnen.2017.11.004","article-title":"Clinical manifestations of the Mmalton alpha-1 antitrypsin deficiency variant","volume":"24","author":"Figueira Goncalves","year":"2017","journal-title":"Pulmonology"},{"issue":"10","key":"10.1016\/j.rmcr.2024.102097_bib5","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1136\/jcp.2006.042762","article-title":"Genotypes and serum concentrations of human alpha-1-antitrypsin \"P\" protein variants in a clinical population","volume":"60","author":"Bornhorst","year":"2007","journal-title":"J. Clin. Pathol."},{"issue":"6","key":"10.1016\/j.rmcr.2024.102097_bib6","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1111\/j.1445-5994.1995.tb02855.x","article-title":"Alpha-1-antitrypsin PLowell: a normally functioning variant present in low concentration","volume":"25","author":"Cook","year":"1995","journal-title":"Aust. N. Z. J. Med."},{"key":"10.1016\/j.rmcr.2024.102097_bib7","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2016.51","article-title":"alpha1-Antitrypsin deficiency","volume":"2","author":"Greene","year":"2016","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"10.1016\/j.rmcr.2024.102097_bib8","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1186\/s13023-023-02830-2","article-title":"The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO","volume":"18","author":"Stockley","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"issue":"7","key":"10.1016\/j.rmcr.2024.102097_bib9","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1164\/rccm.168.7.818","article-title":"American Thoracic Society\/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency","volume":"168","year":"2003","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.rmcr.2024.102097_bib10","doi-asserted-by":"crossref","first-page":"2535","DOI":"10.2147\/COPD.S224221","article-title":"Diagnosing alpha-1-antitrypsin deficiency using A PCR\/luminescence-based technology","volume":"14","author":"Veith","year":"2019","journal-title":"Int J Chron Obstruct Pulmon Dis"},{"issue":"9","key":"10.1016\/j.rmcr.2024.102097_bib11","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1164\/rccm.202305-0863OC","article-title":"Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline - a multi-national registry analysis","volume":"208","author":"Fraughen","year":"2023","journal-title":"Am. J. Respir. Crit. Care Med."},{"issue":"1","key":"10.1016\/j.rmcr.2024.102097_bib12","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s13023-016-0453-8","article-title":"Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015","volume":"11","author":"Greulich","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"issue":"7","key":"10.1016\/j.rmcr.2024.102097_bib13","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S2213-2600(23)00093-0","article-title":"Bronchiectasis in Europe: data on disease characteristics from the European Bronchiectasis registry (EMBARC)","volume":"11","author":"Chalmers","year":"2023","journal-title":"Lancet Respir. Med."},{"issue":"6","key":"10.1016\/j.rmcr.2024.102097_bib14","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.arbres.2023.01.004","article-title":"Alpha(1)-Antitrypsin inherited variants in patients with bronchiectasis","volume":"59","author":"Aliberti","year":"2023","journal-title":"Arch. Bronconeumol."},{"key":"10.1016\/j.rmcr.2024.102097_bib15","series-title":"Chronic Obstructive Pulmonary Diseases","article-title":"Impact of bronchiectasis on COPD severity and alpha-1 antitrypsin deficiency as a risk factor in individuals with a heavy smoking history","author":"Izquierdo","year":"2023"},{"issue":"5","key":"10.1016\/j.rmcr.2024.102097_bib16","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00610-2017","article-title":"European Respiratory Society statement: diagnosis and treatment of pulmonary disease in alpha1-antitrypsin deficiency","volume":"50","author":"Miravitlles","year":"2017","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.rmcr.2024.102097_bib17","article-title":"Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency","volume":"39","author":"Buck","year":"2022","journal-title":"Respir Med Case Rep"},{"issue":"1","key":"10.1016\/j.rmcr.2024.102097_bib18","doi-asserted-by":"crossref","first-page":"59","DOI":"10.4103\/atm.ATM_234_17","article-title":"Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli","volume":"13","author":"Mosella","year":"2018","journal-title":"Ann. Thorac. Med."},{"issue":"5","key":"10.1016\/j.rmcr.2024.102097_bib19","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/s00408-017-0033-2","article-title":"A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis","volume":"195","author":"Carpagnano","year":"2017","journal-title":"Lung"},{"key":"10.1016\/j.rmcr.2024.102097_bib20","first-page":"64","article-title":"Identification of a novel alpha1-antitrypsin variant","volume":"20","author":"de Seynes","year":"2017","journal-title":"Respir Med Case Rep"},{"key":"10.1016\/j.rmcr.2024.102097_bib21","doi-asserted-by":"crossref","first-page":"891","DOI":"10.2147\/COPD.S80173","article-title":"Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism","volume":"10","author":"Milger","year":"2015","journal-title":"Int J Chron Obstruct Pulmon Dis"}],"container-title":["Respiratory Medicine Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213007124001205?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213007124001205?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T05:07:21Z","timestamp":1726636041000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213007124001205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":21,"alternative-id":["S2213007124001205"],"URL":"https:\/\/doi.org\/10.1016\/j.rmcr.2024.102097","relation":{},"ISSN":["2213-0071"],"issn-type":[{"type":"print","value":"2213-0071"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Alpha-1 antitrypsin deficiency associated with rare SERPINA1 alleles p.(Phe76del) and p.(Asp280Val): A family study","name":"articletitle","label":"Article Title"},{"value":"Respiratory Medicine Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rmcr.2024.102097","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"102097"}}