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 c...

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...