Autoimmune Diseases

Rheumatoid arthritis, scleroderma, systemic lupus, myositis, primary biliary cirrhosis, and multiple sclerosis are diseases where the immune system is not working normally. Instead of reacting only to that which is foreign and potentially dangerous, such as invading infectious organisms, the immune system also reacts against some of its own normal tissue. This is called "autoimmunity", in other words, immunity against self. The purpose of our work in autoimmune disease is to figure out why this occurs. There is no treatment involved.

These are some of the diseases we currently study:

(Disease descriptions taken from excerpts of The Autoimmune Diseases, 3rd edition, NR Rose, IR Mackay (eds.)

Scleroderma (systemic sclerosis)

The term scleroderma means hardening of the skin and has been applied to disease which is characterized by fibrosis (the formation of fibrous tissue) and vasculopathy (inflammation of vessels) in which skin thickening is a prominent feature.

This disease comes primarily in two forms, diffuse and limited. Diffuse disease is characterized by extensive fibrosis and vascular obliteration involving the skin and a variety of internal organs often including the lungs, heart and gastrointestinal tract. Limited disease is less severe and can involve the skin and, to a lesser extent, internal organs such as the esophagus.

Scleroderma affects women more frequently than men. Scleroderma begins to be more frequent in women in their 20's and 30's, increasing further in the 40's and 50's. Because these are years following the time of childbearing, we have asked whether changes to the immune system that happen during pregnancy might predispose a woman to the later development of scleroderma.

For more information:
The Arthritis Foundation
The Scleroderma Foundation

Rheumatoid Arthritis

Rheumatoid arthritis is an autoimmune disease that affects more than 2.5 million people in the United States and is diagnosed by typical symptoms and characteristic patterns of joint disease. Rheumatoid arthritis is an inflammatory autoimmune process affecting the joints and sometimes other tissues. Current therapy is directed toward diminishing the inflammatory response and treating the uncontrolled inflammation.

Rheumatoid arthritis gets better or even goes away entirely for most women during pregnancy. This is not explained by changes in sex hormones because taking estrogen and progesterone doesn't make rheumatoid arthritis better. However, what is unique to pregnancy is that a woman is exposed to another individual who is half-foreign to her because half of the child's genes are inherited from the father. Recent studies have found that some cells traffic between a mother and fetus during pregnancy. One of the big mysteries in immunology is why this "half-foreign graft" isn't rejected. We believe that the leakage of cells in both directions contributes to a bi-directional communication that both leads to tolerance of the fetus and to correction of the immune system dysfunction of the mother.

We previously found that remission of rheumatoid arthritis occurred most often when the child had inherited a particular set of genes from the father that were different from the mother's genes. The genes that are important are called HLA class II genes. They are genes that are particularly important in immune responses and to the distinction of self versus foreign. In current work we are studying how the differences for these particular genes result in a beneficial effect on rheumatoid arthritis.

For more information:
The Arthritis Foundation

Type 1 Diabetes

Type 1 diabetes is a disease in which the body does not produce sufficient insulin. Insulin takes the sugar from the blood and transfers it into the cells to be used for fuel. Without the proper amount of insulin, the body can have difficulty regulating blood sugar. Type 1 diabetes is usually diagnosed in children and young adults and was previously known as juvenile diabetes. Type 1 diabetes can increase the risk for many serious complications including heart disease, blindness, nerve damage and kidney damage.

For more information:
The Juvenile Diabetes Research Foundation (JDRF)
The Iacocca Foundation

Systemic Lupus Erythematosis

Lupus is a disease that can affect virtually all organ systems and is sufficiently complex so that two patients might not share any clinical findings and yet both satisfy criteria for a diagnosis of lupus. The most common symptoms of lupus include malar (cheek) and photosensitive rashes, nondeforming arthritis, serositis (inflammation of tissues lining the lungs or heart), central nervous system disease and kidney involvement.

For more information:
Dr. Anne Stevens
The Arthritis Foundation
The Lupus Foundation


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