Pub. Date:
Springer US
Immunogenetics of Autoimmune Disease / Edition 1

Immunogenetics of Autoimmune Disease / Edition 1

by Jorge R. Oksenberg, David Brassat
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utoimmunity is the downstream outcome of a rather extensive and coordinated series of events that include loss of self-tolerance, peripheral lymphocyte Aactivation, disruption of the blood-systems barriers, cellular infiltration into the target organs and local inflammation. Cytokines, adhesion molecules, growth factors, antibodies, and other molecules induce and regulate critical cell functions that perpetuate inflammation, leading to tissue injury and clinical phenotype. The nature and intensity of this response as well as the physiological ability to restore homeostasis are to a large extent conditioned by the unique amino acid sequences that define allelic variants on each of the numerous participating mol­ ecules. Therefore, the coding genes in their germline configuration play a primary role in determining who is at risk for developing such disorders, how the disease progresses, and how someone responds to therapy. Although genetic components in these diseases are clearly present, the lack of obvious and homogeneous modes of transmission has slowed progress by prevent­ ing the full exploitation of classical genetic epidemiologic techniques. Furthermore, autoimmune diseases are characterized by modest disease risk heritability and m- tifaceted interactions with environmental influences. Yet, several recent discoveries have dramatically changed our ability to examine genetic variation as it relates to human disease. In addition to the development of large-scale laboratory methods and tools to efficiently recognize and catalog DNA diversity, over the past few years there has been real progress in the application of new analytical and data-manage­ ment approaches.

Product Details

ISBN-13: 9781489997487
Publisher: Springer US
Publication date: 12/13/2014
Series: Medical Intelligence Unit
Edition description: 2006
Pages: 158
Product dimensions: 6.10(w) x 9.25(h) x (d)

Table of Contents

Preface     xi
HLA and Autoimmunity: Structural Basis of Immune Recognition   Kai W. Wucherpfennig     1
General Structural Features of MHC Class II Molecules     1
Structural Properties of HLA-DR Molecules Associated with Human Autoimmune Diseases     2
Structure and Function of HLA-DQ Molecules That Confer Susceptibility to Type 1 Diabetes and Celiac Disease     4
Presentation of Deamidated Gliadin Peptides by HLA-DQ8 and HLA-DQ2 in Celiac Disease     6
Disease-Associated MHC Class II Molecules and Thymic Repertoire Selection     8
Genomic Variation and Autoimmune Disease   Silke Schmidt   Lisa F. Barcellos     13
Study Design and Methods of Linkage Analysis     13
Study Design for Association Analysis     15
Population-Based Association Analysis Methods     18
Genetic Markers and Detection Methods     19
Genetic Studies of Autoimmune Disorders     20
New Approaches to Genome Wide Screening to Detect Disease Associations     21
Endocrine Diseases: Type I Diabetes Mellitus   Regine Bergholdt   Michael F. McDermott   Flemming Pociot     28
The HLA Region in T1D Susceptibility     28
Non HLA Genes in T1D Susceptibility     30
Additional Candidate Genes     33
Vitamin D Receptor     33
EIF2AK3     33
PTPN22     34
SUMO4     34
Endocrine Diseases: Graves' and Hashimoto's Diseases   Yoshiyuki Ban   Yaron Tomer     41
Genetic Epidemiology of AITD     41
Susceptibility Genes in AITD Immune Related Genes     42
Thyroid Associated Genes     46
The Effect of Ethnicity on the Development of AITD     47
Mechanisms by Which Genes Can Induce Thyroid Autoimmunity     49
Central and Peripheral Nervous System Diseases   Dorothee Chabas   Isabelle Cournu-Rebeix   Bertrand Fontaine     59
Multiple Sclerosis     59
Myasthenia Gravis     61
Guillain Barre Syndrome     63
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)     65
Narcolepsy     66
Serological Typing Studies     67
HLA-DQB1*0602     67
Complementation of HLA-DQA1 and DQB1     70
Sequencing of HLA Alleles     70
Other HLA Protecting or Favorizing Genes     70
Immunogenetics of Rheumatoid Arthritis, Systemic Sclerosis and Systemic Lupus Erythematosus   Allison Porter    J. Lee Nelson     75
Rheumatoid Arthritis (RA)     75
Scleroderma and Systemic Sclerosis (SSc)     80
HLA Associations with SSc and SSc Related Autoantibodies     81
Systemic Lupus Erythematosus (SLE)     85
Gastroenterologic and Hepatic Diseases   Marcela K. Tello-Ruiz   Emily C. Walsh   John D. Rioux     92
Inflammatory Bowel Diseases     94
Celiac Disease     101
Autoimmune Hepatitis     104
Inflammatory Myopathies: Dermatomyositis, Polymyositis and Inclusion Body Myositis   Renato Mantegazza   Pia Bernasconi     119
Clinical Aspects     120
Histopathology     120
Immunopathogenesis     122
Hematologic Diseases: Autoimmune Hemolytic Anemia and Immune Thrombocytopenic Purpura   Mattias Olsson   Sven Hagnerud   David U.R. Hedelius   Per-Arne Oldenborg     135
Autoimmune Hemolytic Anemia     135
Immune Thrombocytopenic Purpura     136
Genetic Control of AEA in AIHA     137
HLA Susceptibility Genes and ITP     138
Genetic Alterations in the Control of T Cell Activation     138
Defective Lymphocyte Apoptosis      139
Fc[gamma] Receptor Polymorphisms in ITP     139
Erythrocyte CD47 and Autoimmune Hemolytic Anemia     140
Genetics of Autoimmune Myocarditis   Mehmet L. Guler   Davinna Ligons   Noel R. Rose     144
The Clinical Impact of Autoimmune Heart Disease     145
Coxsackievirus B3 (CB3) Induced Cardiomyopathy Is an Autoimmune Disease     145
Genetic Influence on Autoimmune Heart Disease     147
Study of Mechanism of Autoimmunity through Identification of Susceptibility Genes     147
Loci Which Influence Autoimmune Myocarditis Are Also Involved in Other Autoimmune Diseases in the A vs. C57BL/6 (B) Murine Model     148
Sensitivity to Apoptosis May Influence Development of Autoimmune Myocarditis     150
Autoimmune Myocarditis in the DBA/2 Mouse Model-Same Phenotypic Disease via Different Mechanisms and Different Loci     151
Index     155

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