References
- LaurellCBErikssonSThe electrophoretic alpha1-globulin pattern of serum in alpha 1-antitrypsin deficiency. 1963COPD201310suppl 13823527532
- SharpHLBridgesRAKrivitWFreierEFCirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorderJ Lab Clin Med19697369349394182334
- OwenMCBrennanSOLewisJHCarrellRWMutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorderN Engl J Med1983309126946986604220
- de SerresFJWorldwide racial and ethnic distribution of alpha 1- antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveysChest200212251818182912426287
- HutchisonDCAlpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and ZRespir Med19989233673779692092
- CurielDTChytilACourtneyMCrystalRGSerum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264—Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretionJ Biol Chem19892641810477104862567291
- LomasDAEvansDLFinchJTCarrellRWThe mechanism of Z alpha 1-antitrypsin accumulation in the liverNature199235763796056071608473
- JanciauskieneSDominaitieneRSternbyNHPiitulainenEErikssonSDetection of circulating and endothelial cell polymers of Z and wild type alpha 1-antitrypsin by a monoclonal antibodyJ Biol Chem200227729265402654612023970
- MulgrewATTaggartCCLawlessMWZ alpha 1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractantChest200412551952195715136414
- TosiMFZakemHBergerMNeutrophil elastase cleaves C3bi on opsonized pseudomonas as well as CR1 on neutrophils to create a functionally important opsonin receptor mismatchJ Clin Invest19908613003082164045
- HartlDLatzinPHordijkPCleavage of CXCR1 on neutrophils disables bacterial killing in cystic fibrosis lung diseaseNat Med200713121423143018059279
- FickRBJrNaegelGPSquierSUWoodREGeeJBReynoldsHYProteins of the cystic fibrosis respiratory tract. Fragmented immunoglobulin G opsonic antibody causing defective opsonophagocytosisJ Clin Invest19847412362486429195
- SmallmanLAHillSLStockleyRAReduction of ciliary beat frequency in vitro by sputum from patients with bronchiectasis: a serine proteinase effectThorax19843996636676382675
- GuyotNButlerMWMcNallyPElafin, an elastase-specific inhibitor, is cleaved by its cognate enzyme neutrophil elastase in sputum from individuals with cystic fibrosisJ Biol Chem200828347323773238518799464
- TaggartCCLoweGJGreeneCMCathepsin B, L, and S cleave and inactivate secretory leucoprotease inhibitorJ Biol Chem200127636333453335211435427
- MillerSDGreeneCMMcLeanCTauroursodeoxycholic acid inhibits apoptosis induced by Z alpha-1 antitrypsin via inhibition of badHepatology200746249650317559149
- ErikssonSPulmonary emphysema and alpha 1-antitrypsin deficiencyActa Med Scand196417519720514124635
- GishenPSaundersAJTobinMJHutchisonDCAlpha 1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British Thoracic AssociationClin Radiol19823343713776979454
- BrantlyMLPaulLDMillerBHFalkRTWuMCrystalRGClinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptomsAm Rev Respir Dis198813823273363264124
- TobinMJCookPJHutchisonDCAlpha 1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British thoracic associationBr J Dis Chest198377114276602621
- JanusEDPhillipsNTCarrellRWSmoking, lung function, and alpha 1-antitrypsin deficiencyLancet1985184211521542857224
- McElvaneyNGStollerJKBuistASBaseline characteristics of enrollees in the national heart, lung and blood institute registry of alpha 1-antitrypsin deficiency. Alpha 1-antitrypsin deficiency registry study groupChest199711123944039041988
- SeersholmNKok-JensenASurvival in relation to lung function and smoking cessation in patients with severe hereditary alpha 1-antitrypsin deficiencyAm J Respir Crit Care Med19951512 pt 13693737842193
- EdenEMitchellDMehlmanBAtopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiencyAm J Respir Crit Care Med1997156168749230728
- LarssonCNatural history and life expectancy in severe alpha 1- antitrypsin deficiency, Pi ZActa Med Scand19782045345351309708
- GuestPJHansellDMHigh resolution computed tomography (HRCT) in emphysema associated with alpha-1-antitrypsin deficiencyClin Radiol19924542602661395384
- KingMAStoneJADiazPTMuellerCFBeckerWJGadekJEAlpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CTRadiology199619911371418633137
- SvegerTErikssonSThe liver in adolescents with alpha 1-antitrypsin deficiencyHepatology19952225145177635419
- SvegerTLiver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infantsN Engl J Med197629424131613211083485
- ErikssonSAlpha 1-antitrypsin deficiency and liver cirrhosis in adults. An analysis of 35 Swedish autopsied casesActa Med Scand198722154614673496734
- RakelaJGoldschmiedtMLudwigJLate manifestation of chronic liver disease in adults with alpha-1-antitrypsin deficiencyDig Dis Sci19873212135813623500836
- SavigeJAChangLCookLBurdonJDaskalakisMDoeryJAlpha 1-antitrypsin deficiency and anti-proteinase 3 antibodies in anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitisClin Exp Immunol199510021941977743654
- SchievinkWIPuumalaMRMeyerFBRaffelCKatzmannJAParisiJEGiant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiencyJ Neurosurg19968535035068751640
- DavisIDBurkeBFreeseDSharpHLKimYThe pathologic spectrum of the nephropathy associated with alpha 1-antitrypsin deficiencyHum Pathol199223157621544671
- Noble-JamiesonGThiruSJohnstonPFriendPBarnesNDGlomerulonephritis with end-stage liver disease in childhoodLancet199233987957067071347585
- GadekJEKleinHGHollandPVCrystalRGReplacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjectsJ Clin Invest1981685115811657028785
- WewersMDCasolaroMASellersSEReplacement therapy for alpha 1-antitrypsin deficiency associated with emphysemaN Engl J Med198731617105510623494198
- CrystalRGAlpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapyJ Clin Invest1990855134313522185272
- ChapmanKRBurdonJGWPiitulainenEIV alpha1 antitrypsin (A1AT) preserves lung density in homozygous alpha1 antitrypsin deficiency (A1ATD); a randomized, placebo-controlled trialAm J Respir Crit Care Med2013187A6069
- SeersholmNWenckerMBanikNDoes alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study groupThe Eur Respir J1997101022602263
- Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study GroupAm J Respir Crit Care Med1998158149599655706
- DirksenADijkmanJHMadsenFA randomized clinical trial of alpha(1)-antitrypsin augmentation therapyAm J Respir Crit Care Med19991605 pt 11468147210556107
- FDAProceedings of Meeting of Blood and Plasma Advisory CommitteeRockville, MarylandFDA1998
- DirksenAPiitulainenEParrDGExploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiencyEur Respir J20093361345135319196813
- ZiomekCACommercialization of proteins produced in the mammary glandTheriogenology199849113914410732127
- WrightGCarverACottomDHigh level expression of active human alpha-1-antitrypsin in the milk of transgenic sheepBiotechnology1991998308341367357
- CasolaroMAFellsGWewersMAugmentation of lung antineutrophil elastase capacity with recombinant human alpha-1-antitrypsinJ Appl Physiol1987635201520233500941
- HubbardRCMcElvaneyNGSellersSEHealyJTCzerskiDBCrystalRGRecombinant DNA-produced alpha 1-antitrypsin administered by aerosol augments lower respiratory tract antineutrophil elastase defenses in individuals with alpha 1-antitrypsin deficiencyJ Clin Invest1989844134913542794066
- KolodkaTMFinegoldMKayMAWooSLHepatic gene therapy: efficient retroviral-mediated gene transfer into rat hepatocytes in vivoSomat Cell Mol Genet19931954914977980740
- SongSMorganMEllisTSustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectorsProc Natl Acad Sci U S A1998952414384143889826709
- ChulayJDYeGJThomasDLPreclinical evaluation of a recombinant adeno-associated virus vector expressing human alpha-1 antitrypsin made using a recombinant herpes simplex virus production methodHum Gene Ther201122215516520812844
- ChiuchioloMJKaminskySMSondhiDIntrapleural administration of an AAVrh.10 vector coding for human alpha1-antitrypsin for the treatment of alpha1-antitrypsin deficiencyHuman gene therapy. Clin Dev2013244161173
- BrantlyMLSpencerLTHumphriesMPhase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adultsHum Gene Ther200617121177118617115945
- BrantlyMLChulayJDWangLSustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapyProc Natl Acad Sci U S A200910638163631636819706466
- FlotteTRTrapnellBCHumphriesMPhase 2 clinical trial of a recombinant adeno-associated viral vector expressing alpha1-antitrypsin: interim resultsHum Gene Ther201122101239124721609134
- BrighamKLLaneKBMeyrickBTransfection of nasal mucosa with a normal alpha1-antitrypsin gene in alpha1-antitrypsin-deficient subjects: comparison with protein therapyHum Gene Ther20001171023103210811231
- LoringHSFlotteTRCurrent status of gene therapy for alpha-1 antitrypsin deficiencyExpert Opin Biol Ther20141825363251
- E9 Statistical Principles for Clinical TrialsGuidance for Industry1998 Available from: http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/ucm073137.pdf
- StollerJKFallatRSchluchterMDAugmentation therapy with alpha1-antitrypsin: patterns of use and adverse eventsChest200312351425143412740257
- WenckerMBanikNBuhlRSeidelRKonietzkoNLong-term treatment of alpha1-antitrypsin deficiency-related pulmonary emphysema with human alpha1-antitrypsin. Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL)-alpha1-AT-study groupEur Respir J19981124284339551749
- MeyerFJWenckerMTeschlerHAcute allergic reaction and demonstration of specific IgE antibodies against alpha-1-protease inhibitorEur Respir J19981249969979817182
- StocksJMBrantlyMLWang-SmithLPharmacokinetic comparability of Prolastin(R)-C to Prolastin(R) in alpha(1)-antitrypsin deficiency: a randomized studyBMC Clin Pharmacol2010101320920295
- ChapmanKRStockleyRADawkinsCWilkesMMNavickisRJAugmentation therapy for alpha1 antitrypsin deficiency: a meta-analysisCOPD20096317718419811373
- StockleyRAParrDGPiitulainenEStolkJStoelBCDirksenATherapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometryRespir Res20101113620920370
- SclarDAEvansMARobisonLMSkaerTLAlpha1-proteinase inhibitor (human) in the treatment of hereditary emphysema secondary to alpha1-antitrypsin deficiency: number and costs of years of life gainedClin Drug Investig2012325353360
- GildeaTRShermockKMSingerMEStollerJKCost-effectiveness analysis of augmentation therapy for severe alpha1-antitrypsin deficiencyAm J Respir Crit Care Med2003167101387139212574076
- HubbardRCSellersSCzerskiDStephensLCrystalRGBiochemical efficacy and safety of monthly augmentation therapy for alpha 1- antitrypsin deficiencyJAMA19882609125912643261353
- BarkerAFIwata-MorganIOvesonLRousselRPharmacokinetic study of alpha1-antitrypsin infusion in alpha1-antitrypsin deficiencyChest199711236076139315791
- CammarataSKStoneCLCareyJLEichenhornMSFailure to achieve adequate serum levels with monthly replacement therapy in alpha 1- antitrypsin deficiencyChest199410626516527774374
- ZamoraNPPlaRVDel RioPGMargaleffRJFriasFRRonsanoJBIntravenous human plasma-derived augmentation therapy in alpha 1-antitrypsin deficiency: from pharmacokinetic analysis to individualizing therapyAnn Pharmacother200842564064618413692
- SoyDde la RozaCLaraBEsquinasCTorresAMiravitllesMAlpha-1-antitrypsin deficiency: optimal therapeutic regimen based on population pharmacokineticsThorax200661121059106416928711
- MullinsCDHuangXMerchantSStoller JK; Alpha One Foundation Research Network RegistryIThe direct medical costs of alpha(1)-antitrypsin deficiencyChest2001119374575211243952
- MullinsCDWangJStollerJKMajor components of the direct medical costs of alpha1-antitrypsin deficiencyChest2003124382683112970004
- MullinsCDBlattLWangJSocietal implications of the pharmacoeconomics of alpha1-antitrypsin deficiencyExpert Rev Pharmacoecon Outcomes Res20022324324919807416
- SandhausRATurinoGStocksJMedical and Scientific Advisory Committee of the Alpha-1 FoundationAlpha1-antitrypsin augmentation therapy for PI*MZ heterozygotes: a cautionary noteChest2008134483183418842915
- MolloyKHershCPMorrisVBClarification of the risk of chronic obstructive pulmonary disease in alpha1-antitrypsin deficiency PiMZ heterozygotesAm J Respir Crit Care Med2014189441942724428606
- TurinoGMBarkerAFBrantlyMLClinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. Alpha 1- Antitrypsin Deficiency Registry Study GroupAm J Respir Crit Care Med19961546 pt 1171817258970361
- TrulockEPLung transplantation for alpha 1-antitrypsin deficiency emphysemaChest19961106 suppl284S294S8989166
- KingMBCampbellEJGrayBHHertzMIThe proteinase-antiproteinase balance in alpha-1-proteinase inhibitor-deficient lung transplant recipientsAm J Respir Crit Care Med19941494 pt 19669718143063
- StonePJMorrisTA3rdFranzblauCSniderGLPreliminary evidence that augmentation therapy diminishes degradation of cross-linked elastin in alpha-1-antitrypsin-deficient humansRespiration199562276797784713
- LiebermanJAugmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting dataChest200011851480148511083705
- WenckerMFuhrmannBBanikNKonietzkoNWissenschaftliche Arbeitsgemeinschaft zur Therapie von LungenerkrankungenLongitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitorChest2001119373774411243951
- TonelliARRouhaniFLiNSchreckPBrantlyMLAlpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue BankInt J Chron Obstruct Pulmon Dis2009444345220054436
- GottliebDJLuisettiMStonePJShort-term supplementation therapy does not affect elastin degradation in severe alpha(1)-antitrypsin deficiency. The American–Italian AATD Study GroupAm J Respir Crit Care Med200016262069207211112116
- StockleyRABayleyDLUnsalIDowsonLJThe effect of augmentation therapy on bronchial inflammation in alpha1-antitrypsin deficiencyAm J Respir Crit Care Med2002165111494149812045122
- StollerJKAboussouanLSAlpha1-antitrypsin deficiencyLancet200536594782225223615978931