umschlag_neutral.qxd 03.10.2007 10:53 Seite 1 2nd edition Karsten Conrad, Werner Schößler, Falk Hiepe, Marvin J. Fritzler Autoantibodies are a very heterogeneous group of antibodies with respect to their specificity, induction, effects, and clinical signifi- cance. Testing for autoantibodies can be helpful or necessary for the diagnosis, differential diagnosis, prognostication, or monitoring of Autoantibodies in Systemic autoimmune diseases. In case of limited (forme fruste) disease or a single disease manifestation, the detection of serum autoantibodies can play an Autoimmune Diseases important role in raising the suspicion of evolving disease and forecasting prog- nosis. This book and reference guide is intended to assist the physician in under- A Diagnostic Reference standing and interpreting the variety of autoantibodies that are being used as diagnostic and prognostic tools for patients with systemic rheumatic diseases. Autoantibodies observed in systemic autoimmune diseases are described in alphabetical order in Part 1 of this reference guide. In Part 2, systemic autoim- mune disorders as well as symptoms that indicate the possible presence of an autoimmune disease are listed. Systemic manifestations of organ-specific autoim- mune diseases will not be covered in this volume. Guide marks were inserted to K. Conrad, W.K. Conrad, Hiepe, M. J. Fritzler F. Schößler, ensure fast and easy cross-reference between symptoms, a given autoimmune disease and associated autoantibodies. Although the landscape of autoantibody testing continues to change, this information will be a useful and valuable refer- ence for many years to come. AUTOANTIGENS, AUTOANTIBODIES, AUTOIMMUNITY Autoantibodies in Systemic Autoimmune Diseases Autoimmune in Systemic Autoantibodies Volume 2, second Edition – 2007 ISBN 978-3-89967-420-0 www.pabst-publishers.com PABST Autoantibodies in Systemic Autoimmune Diseases A Diagnostic Reference Karsten Conrad, Werner Schößler, Falk Hiepe, Marvin J. Fritzler Gesellschaft zur Förderung der Immundiagnostik e.V. Dresden http://www.GFID-eV.de AUTOANTIGENS,AUTOANTIBODIES,AUTOIMMUNITY Edited by: K. Conrad (Dresden, Germany) U. Sack (Leipzig, Germany) Vol. 2, second Edition – 2007 Authors Dr. Karsten Conrad Institute for Immunology Medical Faculty of the Technical University Dresden Fetscherstrasse 74 01307 Dresden, GERMANY Phone: +49 (0) 351-458-6540 Fax: +49 (0) 351-458-6308 E-mail: K [email protected] Dr. Werner Schößler Rathenaustr. 12 16341 Panketal, GERMANY Fax: +49 (0) 30-983-119-94 E-mail: [email protected] Prof. Dr. Falk Hiepe Charite´ University Hospital Department of Rheumatology & Clinical Immunology Schumannstraße 20/21 10117 Berlin, GERMANY Phone: +49 (0) 30-450-513012 Fax: +49 (0) 30-450-51392 E-mail: [email protected] Marvin J. Fritzler, MD, PhD Professor of Medicine Arthritis Society Chair Faculty of Medicine University of Calgary Calgary, Alberta, CANADA Phone: +01 403-220-3533 Fax: +01 403-283-5666 E-mail: [email protected] Contents Preface, 2nd edition................................ XV Preface, 1st edition................................. XVI NotesfortheUseofthisBook.......................... 1 Autoantibodies Definitions and Characteristics ............. 3 Autoantibodies in the Diagnosis of Autoimmune Diseases ........ 4 Part 1 Autoantibodies in Systemic Autoimmune Diseases Alanyl-tRNA (tRNAAla)SynthetaseAntibodies.............. 10 Alpha-ActininAntibodies.......................... 10 Alpha-EnolaseAntibodies.......................... 10 Alpha-FodrinAntibodies .......................... 12 Aminoacyl-tRNASynthetaseAntibodies ................. 13 AnnexinVAntibodies............................ 15 AntineutrophilCytoplasmicAntibodies(ANCA)............. 16 AntinuclearAntibodies(ANA)....................... 19 ASE-1Antibodies............................... 21 Asparaginyl-tRNA (tRNAAsp)SynthetaseAntibodies........... 21 AssemblyosomeAntibodies......................... 22 AzurocidinAntibodies............................ 22 Beta-FodrinAntibodies............................ 24 Beta-2 Glycoprotein I (β2-GPI)Antibodies................ 24 BPIAntibodies................................ 27 C1DAntibodies................................ 28 C1qAntibodies................................ 28 CADM-140Antibodies............................ 30 CalpastatinAntibodies............................ 31 CalreticulinAntibodies............................ 32 cANCA(C-ANCA).............................. 33 VI C CardiolipinAntibodies............................ 34 CathepsinGAntibodies........................... 37 CCPAntibodies................................ 38 CD16Antibodies............................... 39 CENP-BAntibodies.............................. 40 CENP-CAntibodies.............................. 40 CENP-EAntibodies ............................. 41 CENP-FAntibodies.............................. 42 CentrioleAntibodies............................. 44 CentromereAntibodies............................ 44 CentrophilinAntibodies........................... 47 CentrosomeAntibodies........................... 47 ChromatinAntibodies............................ 49 ChromoAntibodies.............................. 50 CitrullinatedProtein/PeptideAntibodies.................. 51 CoilinAntibodies............................... 53 CollagenAntibodies............................. 54 CRPAntibodies................................ 56 Cryoglobulins................................. 56 CytoplasmicLinkerProtein170(CLIP-170)Antibodies ......... 57 DEKAntibodies................................ 58 Double-StrandedDNA(dsDNA)Antibodies............... 59 EEA-1Antibodies............................... 62 EF1AAntibodies................................ 63 EJAntibodies................................. 64 ElastaseAntibodies.............................. 64 ENAAntibodies................................ 64 EndothelialCellAntibodies......................... 65 EPCRAntibodies............................... 66 ExosomeAntibodies............................. 67 FerAntibodies................................. 67 FerritinAntibodies.............................. 67 FibrillarinAntibodies............................. 68 Fibrillin1Antibodies............................. 69 FibroblastAntibodies............................. 70 FilaggrinAntibodies............................. 70 Glutaminyl-tRNA (tRNAGlu)SynthetaseAntibodies........... 71 Glycyl-tRNA (tRNAGly)SynthetaseAntibodies.............. 71 GM1Antibodies ............................... 72 GolgiApparatusAntibodies......................... 72 GuAntibodies................................. 74 GWBAntibodies............................... 74 C VII HeatShockProtein(Hsp)Antibodies................... 76 Histidyl-tRNA (tRNAHis)Synthetase(HRS)Antibodies......... 77 HistoneAntibodies.............................. 77 HMGAntibodies............................... 79 HsEg5Antibodies............................... 80 5-HT4ReceptorAntibodies......................... 80 HumanNeutrophilElastase(HNE)Antibodies.............. 80 IFI16Antibodies............................... 81 IgAAutoantibodies.............................. 82 Isoleucyl-tRNA (tRNAIle)SynthetaseAntibodies............. 83 JaAntibodies.................................. 83 Jo-1Antibodies................................ 83 KeratinAntibodies(AKA).......................... 85 KiAntibodies................................. 86 KinectinAntibodies.............................. 87 KJAntibodies................................. 87 KSAntibodies................................. 88 KuAntibodies................................. 88 L5/5S Antibodies ............................... 90 L7Antibodies................................. 91 L12Antibodies................................. 91 LactoferrinAntibodies............................ 91 LaminAntibodies............................... 92 La/SS-BAntibodies.............................. 92 LECellFactor................................. 95 LEDGF(LensEpithelialDerivedGrowthFactor)Antibodies...... 96 Leucyl-tRNA (tRNALeu)SynthetaseAntibodies.............. 97 LipoproteinLipase(LPL)Antibodies.................... 97 LupusAnticoagulant(LA).......................... 98 LysosomeAntibodies............................. 100 LysozymeAntibodies............................. 101 Lysyl-tRNA (tRNALys)SynthetaseAntibodies............... 101 M3mAchR(M3R)Antibodies........................ 101 MasAntibodies................................ 101 MBLAntibodies................................ 102 MCVAntibodies............................... 102 Mi-2Antibodies................................ 103 MidbodyAntibodies............................. 105 MMPAntibodies............................... 107 Mpp1Antibodies............................... 107 Mpp10Antibodies............................... 108 MSAAntibodies................................ 108 VIII C MyeloperoxidaseAntibodies......................... 110 MyosinAntibodies.............................. 113 Nedd5Antibodies............................... 113 NMDAReceptorAntibodies......................... 114 NOR-90Antibodies.............................. 115 NucleolarAntibodies............................. 117 NucleolinAntibodies............................. 118 NucleophosminAntibodies......................... 119 NucleosomeAntibodies........................... 120 NuMAAntibodies............................... 122 OJAntibodies................................. 124 oxLDLAntibodies............................... 124 pANCA(P-ANCA).............................. 126 PCNAAntibodies............................... 128 PDGFReceptor(PDGFR)Antibodies..................