The Molecular Pathology of Autoimmune Diseases Second Edition The Molecular Pathology of Autoimmune Diseases Second Edition Edited by Argyrios N.Theofilopoulos The Scripps Research Institute La Jolla, California, USA Constantin A.Bona Mount Sinai School of Medicine New York, USA USA Publishing Office: TAYLOR & FRANCIS 29 West 35th Street New York, NY 10001 Tel: (212) 216–7800 Fax: (212) 564–7854 This edition published in the Taylor & Francis e-Library, 2006. “ To purchase your own copy of this or any of Taylor & Francis or Routledge’s collection of thousands of eBooks please go to http://www.ebookstore.tandf.co.uk/.” Distribution Centre: TAYLOR & FRANCIS 7625 Empire Drive Florence, KY 41042 Tel: 1– 800–634–7064 Fax: 1–800–248–4724 UK TAYLOR & FRANCIS 11 New Fetter Lane London EC4P 4EE Tel: +44 (0) 20 7583 9855 Fax: +44 (0) 20 7842 2298 THE MOLECULAR PATHOLOGY OF AUTOIMMUNE DISEASES: 2nd Edition Copyright © 2002 Taylor & Francis. All rights reserved. Printed in the United States of America. Except as permitted under the United States Copyright Act of 1976, no part of this publication may be reproduced or distributed in any form or by any means, or stored in a database or retrieval system, without the prior written permission of the publisher. The paper in this publication meets the requirements of the ANSI Standard Z39.48–1984 (Permanence of Paper). British Library of Congress Cataloguing-in-Publication Data A CIP catalog record for this book is available from the British Library. ISBN 0-203-30516-7 Master e-book ISBN ISBN 0-203-34346-8 (Adobe e-Reader Format) ISBN 90-5702-645-7 (Print Edition) COVER ART: Crystal structure of a cell receptor in complex with peptide/MHC (Courtesy of Luc Teyton and Ian Wilson, The Scripps Research Institute) CONTENTS List of Contributors xi Preface xxxi CHAPTER Molecular Pathology of Autoimmune Diseases: An Overview 1 1. Argyrios N.Theofilopoulos SECTION I. BASIC ASPECTS OF AUTOIMMUNE PROCESSES CHAPTER B Cell Tolerance and Autoimmunity 28 2. Valerie Kouskoff, Doron Melamed and David Nemazee CHAPTER Genetic Origin of Human Autoantibodies 61 3. Kathleen N.Potter and Freda K.Stevenson CHAPTER Genetic Origin of Murine Autoantibodies 84 4. Azad K.Kaushik and Constantin A.Bona CHAPTER T Cell Development and Tolerance 107 5. Harald Von Boehmer and Iannis Aifantis CHAPTER T Cell Antigen Receptors and Autoimmune Repertoires 120 6. Roberto Baccala, Rosana Gonzalez-Quintial and Argyrios N.Theofilopoulos CHAPTER Autoimmune T Cell Recognition: Stractural Insights 188 7. Thomas Stratmann and Luc Teyton CHAPTER TCR Signaling Pathways and Their Relevance to Autoimmunity 204 8. Tomas Mustelin and Amnon Altman CHAPTER Cytokines and the Th1/Th2 Paradigm in Autoimmunity 228 9. Francesco Sinigaglia CHAPTER T Cell Adhesion Molecules in Autoimmunity 243 10. Christopher D.Buckley, Patricia Lalor, Mike Salmon, Gerard B.Nash and David Adams CHAPTER Apoptosis and Autoimmunity 274 11. Keith B.Elkon CHAPTER Processing and Presentation of Self-Antigens 294 12. Constantin A.Bona CHAPTER The Role of HLA in Autoimmune Diseases 308 13. John A.Gebe and Gerald T.Nepom CHAPTER Antigenic Mimicry in Autoimmune Diseases 326 14. Madeleine W.Cunningham and Constantin A.Bona CHAPTER The Idiotypic Network in Autoimmunity 361 15. Irun R.Cohen CHAPTER Chemokine Receptors as Regulators of Dendritic Cell and 372 16. Lymphocyte Traffic: Relevance to Autoimmunity Federica Sallusto and Antonio Lanzavecchia CHAPTER Complement and Complement Receptors in Autoimmunity 389 17. Elahna Paul and Michael C.Carroll SECTION II. SYSTEMIC AUTOIMMUNE DISEASES CHAPTER Human Systemic Lupus Erythematosus 416 18. George C.Tsokos and Dimitrious Boumpus CHAPTER Abnormalities in B Cell Activity and the Immunoglobulin 461 19. Repertoire in Human Systemic Lupus Erythematosus Amrie C.Grammer, Thomas Dörner and Peter E.Lipsky CHAPTER The Anti-Phospholipid Syndrome 519 20. Stephen W.Reddel and Steven A.Krilis CHAPTER Genes and Genetics of Murine Lupus 566 21. Dwight H.Kono and Argyrios N.Theofilopoulos CHAPTER Rheumatoid Arthritis 605 22. Thomas Pap, Renate E.Gay and Steffen Gay CHAPTER Experimental Animal Models of Rheumatoid Arthritis 647 23. Rikard Holmdahl CHAPTER Sjögren’s Syndrome: An Autoimmune Exocrinopathy 671 24. Robert I.Fox, Joichiro Hayashi and Paul Michelson CHAPTER Experimental Models of Sjögren’s Syndrome 702 25. Roland Jonsson and Kathrine Skarstein CHAPTER Systemic Sclerosis (Scleroderma) 727 26. Frank C.Arnett CHAPTER Experimental Models of Scleroderma 754 27. Kuppuswamy N.Kasturi and Constantin A.Bona CHAPTER Systemic Vasculitis 777 28. Cees G.M.Kallenberg and J.W.Cohen Tervaert SECTION III: ORGAN-SPECIFIC AUTOIMMUNE DISEASES Hematologic Autoimmune Diseases CHAPTER Autoimmune Hemolytic Anemia 815 29. Gregory A.Denomme, Catherine P.M.Hayward and John G.Kelton CHAPTER Experimental Models of Autoimmune Hemolytic Anemia 839 30. Sidonia Fagarasan, Norihiko Watanabe and Tasuku Honjo CHAPTER Autoimmune Thrombocytopenic Purpura 874 31. Diane J.Nugent and Thomas J.Kunicki CHAPTER Experimental Model of Thrombocytopenic Purpura 910 32. Susumu Ikehara, Hajime Mizutani, Yashushi Adachi and Yoshiyuki Kurata CHAPTER Autoimmune Neutropenia 922 33. Henrik J.Ditzel Endocrine Autoimmune Diseases CHAPTER Human Autoimmune Diabetes 948 34. Peter A.Gottlieb and George S.Eisenbarth CHAPTER Animal Models of Type I Diabetes 988 35. Jean-François Bach CHAPTER The Autoimmune Response in a Transgenic Mouse Model of 1011 36. Insulin-Dependent Diabetes Adelaida Sarukhan, Oskar Lechner, Ulrich Walter, Astrid Lanoue, Anke Frankl, Carole Zober, Jan Buer and Harald von Boehmer CHAPTER Hashimoto’s Disease 1023 37. Sandra M.McLachlan and Basil Rapoport 635 CHAPTER Immunological Mechanisms in Graves’ Disease 1048 38. Terry F.Davies, David L.Kendler and Andreas Martin CHAPTER Experimental Models of Autoimmune Thyroiditis 1107 39. Jeannine Charreire CHAPTER Autoimmune Polyglandular Syndromes and Addison’s Disease 1132 40. Qiao-Yi Chen and Noel Maclaren CNS Autoimmune Diseases CHAPTER Molecular Pathology of Multiple Sclerosis 1159 41. David E.Anderson, Amit Bar-Or and David A.Hafler CHAPTER Experimental Autoimmune Encephalomyelitis 1184 42. Ana C.Anderson, Lindsay B.Nicholson and Vijay K.Kuchroo Autoimmune Diseases of the Muscle CHAPTER Myasthenia Gravis 1214 43. Alexander Marx CHAPTER Experimental Autoimmune Myasthenia Gravis 1254 44. Premkumar Christadoss, Mathilde A.Poussin and Caishu Deng Autoimmune Diseases of the Skin CHAPTER Vitiligo 1275 45. Raymond E.Boissy CHAPTER Pemphigus 1288 46. Mong-Shang Lin, Luis A.Arteaga, Simon J.P.Warren and Luis A.Diaz Gastrointestinal Autoimmune Diseases CHAPTER Immunopathological Conditions Affecting Oral Tissues 1315 47. Patricia Price and Gareth Davies CHAPTER Behçet’s Disease 1332 48. Tsuyoshi Sakane and Noboru Suzuki CHAPTER Autoimmune Gastritis and Pernicious Anemia 1353 49. Ban-Hock Toh, John Sentry and Frank Alderuccio CHAPTER An Experimental Model of Autoimmune Gastritis 1374 50. Tomoya Katakai, Tohru Masuda and Akira Shimizu CHAPTER Immunoregulatory Defects in Inflammatory Bowel Disease 1388 51. Lloyd Mayer CHAPTER Experimental Models of Inflammatory Bowel Disease 1412 52. Fiona Powrie and Michael W.Leach Hepatic Autoimmune Diseases CHAPTER Molecular Considerations and Immunopathology of Primary 1438 53. Biliary Cirrhosis Akiyoshi Nishio, James Neuberger and M.Eric Gershwin CHAPTER Autoimmune Hepatitis 1473 54. Michael P.Manns, Christian P.Strassburg and Petra Obermayer- Straub Cardiovascular Autoimmune Diseases CHAPTER Autoimmune Myocarditis 1531 55. Susan L.Hill, Marina Afanasyeva and Noel R.Rose CHAPTER Autoimmunity in Atherosclerosis 1555 56. Georg S.Wick and Qingbo Xu Other Organ-Specific Autoimmune Diseases CHAPTER Autoimmune Diseases of the Eye 1575 57. Igal Gery, Robert B.Nussenblatt, Chi-Chao Chan and Rachel R.Caspi CHAPTER Autoimmune Renal Disease Involving Renal Basement 1609 58. Membrane Antigens Curtis B.Wilson, Dorin-Bodgan Borza and Billy G.Hudson CHAPTER Autoimmune Disease of the Spermatozoa, Ovary and Testes 1658 59. Kenneth S.K.Tung, Francesco Fusi and Cory Teuscher SECTION IV: ASSOCIATED AUTOIMMUNITY CHAPTER HIV Infection and Autoimmunity 1682 60. Alberto Amadori and Fulvia Chieco-Bianchi