α1-Antitrypsin Phenotypes and Associated Serum Protein Concentrations in a Large Clinical Population

Crystal, 1989, The alpha 1-antitrypsin gene and its deficiency states, Trends Genet, 5, 411, 10.1016/0168-9525(89)90200-X Aboussouan, 2009, Detection of alpha-1 antitrypsin deficiency: a review, Respir Med, 103, 335, 10.1016/j.rmed.2008.10.006 Stoller, 2005, Alpha1-antitrypsin deficiency, Lancet, 365, 2225, 10.1016/S0140-6736(05)66781-5 Needham, 2004, Alpha 1-antitrypsin deficiency. 3: clinical manifestations and natural history, Thorax, 59, 441, 10.1136/thx.2003.006510 Janus, 1985, Smoking, lung function, and alpha 1-antitrypsin deficiency, Lancet, 1, 152, 10.1016/S0140-6736(85)91916-6 Fairbanks, 2008, Liver disease in alpha 1-antitrypsin deficiency: a review, Am J Gastroenterol, 103, 2136, 10.1111/j.1572-0241.2008.01955.x de Serres, 2003, Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed, Environ Health Perspect, 111, 1851, 10.1289/ehp.6511 de Serres, 2003, Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America, Clin Genet, 64, 382, 10.1034/j.1399-0004.2003.00143.x Luisetti, 2004, Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency, Thorax, 59, 164, 10.1136/thorax.2003.006494 Silverman, 1989, Alpha-1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening, Am Rev Respir Dis, 140, 961, 10.1164/ajrccm/140.4.961 Massi, 1982, Alpha 1-antitrypsin PiM subtypes and chronic obstructive pulmonary disease (COPD), Chest, 82, 513, 10.1378/chest.82.4.513 DeMeo, 2004, Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk, Thorax, 59, 259, 10.1136/thx.2003.006502 Stoller, 2012, A review of α1-antitrypsin deficiency, Am J Respir Crit Care Med, 185, 246, 10.1164/rccm.201108-1428CI Turino, 1996, Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group, Am J Respir Crit Care Med, 154, 1718, 10.1164/ajrccm.154.6.8970361 Dahl, 2002, Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: a longitudinal study of the general population, Ann Intern Med, 136, 270, 10.7326/0003-4819-136-4-200202190-00006 Dahl, 2005, The protease inhibitor PI*S allele and COPD: a meta-analysis, Eur Respir J, 26, 67, 10.1183/09031936.05.00135704 Yang, 2008, Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk, Arch Intern Med, 168, 1097, 10.1001/archinte.168.10.1097 1997, Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting, Bull World Health Organ, 75, 397 Stoller, 2005, Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem, Chest, 128, 1989, 10.1378/chest.128.4.1989 Jain, 2011, Impact of a clinical decision support system in an electronic health record to enhance detection of α1-antitrypsin deficiency, Chest, 140, 198, 10.1378/chest.10-1658 Sveger, 2000, A future for neonatal alpha1-antitrypsin screening?, Acta Paediatr, 89, 259 Bals, 2007, Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program, Respir Med, 101, 1708, 10.1016/j.rmed.2007.02.024 Campos, 2005, Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003, Chest, 128, 1179, 10.1378/chest.128.3.1179 Stoller, 2005, American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency [in German], Pneumologie, 59, 36, 10.1055/s-2004-830176 Brantly, 2006, Efficient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin deficiency: The promise of early diagnosis and intervention, Clin Chem, 52, 2180, 10.1373/clinchem.2006.078907 Righetti, 1991, Isoelectric focusing in immobilized pH gradients: applications in clinical chemistry and forensic analysis, J Chromatogr A, 569, 197, 10.1016/0378-4347(91)80230-A Gorrini, 2006, Validation of a rapid, simple method to measure alpha1-antitrypsin in human dried blood spots, Clin Chem, 52, 899, 10.1373/clinchem.2005.062059 Aslanidis, 1999, High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves, Clin Chem, 45, 1872, 10.1093/clinchem/45.10.1872 Chen, 2011, Simultaneous phenotyping and quantification of α-1-antitrypsin by liquid chromatography-tandem mass spectrometry, Clin Chem, 57, 1161, 10.1373/clinchem.2011.163006 Snyder, 2006, Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping, Clin Chem, 52, 2236, 10.1373/clinchem.2006.072991 Bornhorst, 2007, Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency, Am J Clin Pathol, 128, 482, 10.1309/44J4KBCFQ8E9D1B8 Steiner, 2003, Serum levels of alpha1-antitrypsin predict phenotypic expression of the alpha1-antitrypsin gene, Dig Dis Sci, 48, 1793, 10.1023/A:1025411515683 Corda, 2006, Diagnostic flow chart for targeted detection of alpha1-antitrypsin deficiency, Respir Med, 100, 463, 10.1016/j.rmed.2005.06.009 Lisowska-Myjak, 2005, AAT as a diagnostic tool, Clin Chim Acta, 352, 1, 10.1016/j.cccn.2004.03.012 Ritchie, 2000, Reference distributions for the positive acute phase proteins, alpha1-acid glycoprotein (orosomucoid), alpha1-antitrypsin, and haptoglobin: a comparison of a large cohort to the world's literature, J Clin Lab Anal, 14, 265, 10.1002/1098-2825(20001212)14:6<265::AID-JCLA3>3.0.CO;2-A Cook, 1996, Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase, Pathology, 28, 242, 10.1080/00313029600169074 Crystal, 1989, The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy, Chest, 95, 196, 10.1378/chest.95.1.196 Faber, 1994, Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele, Am J Hum Genet, 55, 1113 Milman, 1988, Acute phase reactants in the elderly, Clin Chim Acta, 176, 59, 10.1016/0009-8981(88)90174-X Brantly, 1991, Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes, Chest, 100, 703, 10.1378/chest.100.3.703 McGee, 2010, Is PiSS alpha-1 antitrypsin deficiency associated with disease?, Pulm Med, 2010, 570679, 10.1155/2010/570679 Eriksson, 1985, Effects of smoking and intermediate alpha 1-antitrypsin deficiency (PiMZ) on lung function, Eur J Respir Dis, 67, 279 Bornhorst, 2007, Genotypes and serum concentrations of human alpha-1-antitrypsin “P” protein variants in a clinical population, J Clin Pathol, 60, 1124, 10.1136/jcp.2006.042762 Lomas, 2004, Alpha1-antitrypsin deficiency. 4: molecular pathophysiology, Thorax, 59, 529, 10.1136/thx.2003.006528 Sifers, 2010, Intracellular processing of alpha1-antitrypsin, Proc Am Thorac Soc, 7, 376, 10.1513/pats.201001-011AW Ogushi, 1987, Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase, J Clin Invest, 80, 1366, 10.1172/JCI113214 Roche, 2009, Automated determination of serum alpha1-antitrypsin by antitryptic activity measurement, Clin Chem, 55, 513, 10.1373/clinchem.2008.117002 Sandford, 1999, Alpha1-antitrypsin genotypes and the acute-phase response to open heart surgery, Am J Respir Crit Care Med, 159, 1624, 10.1164/ajrccm.159.5.9711004 Hill, 1999, Evidence for excessive bronchial inflammation during an acute exacerbation of chronic obstructive pulmonary disease in patients with alpha(1)-antitrypsin deficiency (PiZ), Am J Respir Crit Care Med, 160, 1968, 10.1164/ajrccm.160.6.9904097 Stoller, 2007, Primary care diagnosis of alpha-1 antitrypsin deficiency: issues and opportunities, Cleve Clin J Med, 74, 869, 10.3949/ccjm.74.12.869