Cover; Title page; Copyright page; Dedication; Contents; Preface; Acknowledgments; Chapter 1 -- Alpha-1 Antitrypsin Deficiency: Introduction and History; 1.1 -- Introduction; 1.2 -- History of the alpha-1 antitrypsin deficiency; References; Chapter 2 -- Serpins and Serpinopathies; 2.1 -- Introduction; 2.2 -- The serpin superfamily; 2.2.1 -- Classification and Nomenclature; 2.2.2 -- Structure and Inhibitory Mechanisms; 2.2.3 -- Polymerization; 2.2.4 -- Serpinopathies; 2.2.4.1 -- Alpha-1 Antitrypsin Deficiency; 2.2.4.2 -- Alpha-1 Antichymotrypsin Deficiency; 2.2.4.3 -- Antithrombin Deficiency

2.2.4.4 -- C1 Inhibitor Deficiency2.2.4.5 -- Neuroserpin Deficiency; 2.2.4.6 -- Transcortin Deficiency; 2.2.4.7 -- Thyroxine-Binding Globulin Deficiency; References; Chapter 3 -- Alpha-1 Antitrypsin Biology; 3.1 -- Structure; 3.2 -- Synthesis and secretion; 3.3 -- Substrate; 3.4 -- Properties; 3.4.1 -- Inhibition of Extracellular Serine Proteases; 3.4.2 -- Inhibition of Transmembrane and Intracellular Proteases; 3.4.3 -- Nonprotease-Inhibitory Antiinflammatory and Immunomodulatory Properties; 3.4.4 -- Antimicrobial Properties; 3.4.5 -- Protection and Repair of Damaged Tissues by Inflammation; References

Chapter 4 -- Alpha-1 Antitrypsin Gene, Genetic Heritage, Phenotypes, and Genotypes4.1 -- The alpha-1 antitrypsin gene; 4.1.1 -- Locus; 4.1.2 -- Expression Regulation; 4.1.3 -- Transcription Stimuli; 4.1.4 -- AAT Transcription; 4.1.5 -- Intracellular Mechanisms of Protein Folding and Secretion; 4.2 -- The "protease inhibitor" system; 4.3 -- Genetic inheritance; 4.4 -- Nomenclature; References; Chapter 5 -- Alpha-1 Antitrypsin Deficiency: Liver Pathophysiology; 5.1 -- Introduction; 5.2 -- The Z and S mutations; 5.3 -- Pathophysiology; 5.4 -- Clinical expression; References

Chapter 6 -- Alpha-1 Antitrypsin Deficiency: Lung Pathophysiology6.1 -- Introduction; 6.2 -- Physiopathological mechanisms of alpha-1 antitrypsin deficiency-related COPD; 6.2.1 -- Alpha-1 Antitrypsin Genotypes Related to COPD Development; 6.2.2 -- Mechanisms; 6.2.2.1 -- Protease-Mediated Lung Disease; 6.2.2.2 -- Oxidant-to-Antioxidant Imbalance; 6.2.2.3 -- Tumor Necrosis Factor-Related Impaired Neutrophil Activity; 6.2.2.4 -- Autoimmunity-Mediated COPD; 6.2.2.5 -- Accumulation of Z Protein Polymers in the Airways; 6.3 -- Clinical expression; References; Chapter 7 -- Genetic Epidemiology

7.1 -- Introduction7.2 -- Pi*Z frequency and prevalence in EuropE; 7.2.1 -- Origin and Spread of the Z Mutation; 7.3 -- Pi*Z frequency in the world; 7.4 -- Number and distribution of Pi*ZZ genotypes in Europe; 7.5 -- Number and distribution of Pi*ZZ genotypes in America; 7.6 -- Number and distribution of Pi*ZZ genotypes in Africa, Asia, Australia, and New Zealand; 7.7 -- Pi*S frequency distribution in the world; 7.8 -- Number and distribution of Pi*SZ genotypes in the world; References; Chapter 8 -- Laboratory Diagnosis; 8.1 -- Introduction

8.2 -- Clinical situations in which alpha-1 antitrypsin deficiency should be suspected

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Includes bibliographical references and index.

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