Chapter category: Autoimmunity
Immunogenetics of Rheumatoid Arthritis, Systemic Sclerosis and Systemic Lupus Erythematosus
Immunogenetics of Autoimmune Disease
Edited by: Jorge Oksenberg and David BrassatISBN: 0-387-36004-2
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Chapter authors:
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). Historically the terms connective-tissue diseases or collagen-vascular diseases have sometimes been used in considering diseases such as RA, SSc and SLE, because fibrinoid degeneration especially in collagen and vascular tissues is often found and was thought to contribute to clinical manifestations of these disorders. The predominant current view is that autoimmunity underlies the pathogenesis of these disorders, with normal tissues, cells and proteins the target of self-directed immune reactivity. Genetic susceptibility to autoimmune rheumatologic diseases is clearly multifactorial involving combinations of many different genes. More than three decades of research, however, indicates HLA genes most often make the strongest genetic contribution. Although the mechanism(s) by which particular HLA genes increase or decrease risk of a disease are not known it is not difficult to appreciate a central role since the products of HLA genes, HLA molecules, are intimately involved in the process of presenting both foreign and self antigens to T cells. For some diseases very specific HLA sequences have been identified and for others extended stretches of genes within the greater major histocompatibility complex (MHC) are implicated. More recently candidate genes other than those in the MHC have been identified for RA, SSc and SLE. Some implicated genes are known to be involved in other aspects of immune regulation while for other candidate genes the functions are as yet unknown.
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