Chapter category: Autoimmunity
Endocrine Diseases: Type I Diabetes Mellitus
Immunogenetics of Autoimmune Disease
Edited by: Jorge Oksenberg and David BrassatISBN: 0-387-36004-2
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Chapter authors:
Regine Bergholdt, Michael F. McDermott and Flemming Pociot
Type 1 diabetes (T1D) [MIM 222100] is the third most prevalent chronic disease of childhood, affecting up to 0.4% of individuals in some populations by age 30 years, with an overall lifetime risk of nearly 1%.1,2 T1D is caused by absolute insulin deficiency due to destruction of the pancreatic β-cells. The majority of T1D cases are believed to develop as a result of immune-mediated destruction of the β-cells, leaving a small proportion of idiopathic cases in which immune markers cannot be detected, which are caused by other pathogenetic mechanisms such as rare genetic syndromes, β-cell lytic virus infections, or environmental factors.3 T1D is associated with an increased risk of premature death due to acute complications and chronic disabling and life-threatening manifestations, including eye disease and blindness, renal failure, neuropathy and cardiovascular disease.
Additional chapters from this book:
Endocrine Diseases: Type I Diabetes Mellitus
Regine Bergholdt, Michael F. McDermott and Flemming Pociot
Type 1 diabetes (T1D) [MIM 222100] is the third most prevalent chronic disease of childhood, affecting up to 0.4% of individuals in some populations by age 30 years, with an overall lifetime risk of...
Endocrine Diseases II: Graves’ and Hashimoto’s Diseases
Yoshiyuki Ban and Yaron Tomer
The autoimmune thyroid diseases (AITD) are complex diseases which are caused by an interaction between susceptibility genes and environmental triggers. Genetic suscepti bility in combination with ex...
Inflammatory Myopathies: Dermatomyositis, Polymyositis and Inclusion Body Myositis
Renato Mantegazza and Pia Bernasconi
Dermatomyositis (DM), polymyositis (PM) and inclusion body myositis (IBM) belong to the heterogeneous group of the inflammatory myopathies and are characterized by muscle cell infiltrations and spec...
Gastroenterologic and Hepatic Diseases
Marcela K. Tello-Ruiz, Emily C. Walsh and John D. Rioux
Celiac disease, autoimmune hepatitis (AIH), and the inflammatory bowel diseases (IBDs), Crohn’s disease and ulcerative colitis (UC), are chronic inflammatory diseases of unknown etiology. They are...
Hematologic Diseases: Autoimmune Hemolytic Anemia and Immune Thrombocytopenic Purpura
Mattias Olsson, Sven Hagnerud, David U.R. Hedelius and Per-Arne Oldenborg
Autoimmune destruction of circulating blood cells in autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP) is often seen in autoimmune diseases and lymhoid malignancies. Eryth...
Immunogenetics of Rheumatoid Arthritis, Systemic Sclerosis and Systemic Lupus Erythematosus
Allison Porter, J. Lee Nelson
The autoimmune rheumatologic diseases discussed in this chapter include rheumatoid arthritis (RA), systemic sclerosis (SSc), also called scleroderma, and systemic lupus erythe matosus (SLE). Histori...
Genomic Variation and Autoimmune Disease
Silke Schmidt, Lisa F. Barcellos
Genetic epidemiology is the study of the relationship between genomic and phenotypic variation with a goal to uncover the genetic basis of monogenic or complex disorders. A variety of study designs ...
HLA and Autoimmunity Structural Basis of Immune Recognition
The MHC region on human chromosome 6p21 is a critical susceptibility locus for many human autoimmune diseases. Susceptibility to a number of these diseases, including rheumatoid arthritis, multiple sc...
Genetics of Autoimmune Myocarditis
Mehmet L. Guler, Davinna Ligons and Noel R. Rose
Autoimmune heart diseases in humans are multifactorial and genetically complex. Fortunately a great deal has been learned from animal models. They have established that a variety of infectious or to...
Central and Peripheral Nervous System
Dorothée Chabas, Isabelle Cournu-Rebeix and Bertrand Fontaine
Immune diseases of central and peripheral nervous system constitute an heterogeneous group of disorders which share a significative implication of the immune system in pathophysiology. Multiple scle...
