What is autoimmunity?

The immune system is responsible for protecting our bodies from pathogens such as bacteria or viruses. Throughout life, blood cells known as lymphocytes are constantly being generated that recognize these foreign invaders. In this process, lymphocytes are sometimes generated that attack our own tissues mistakenly and lead to autoimmune disease.

What is the purpose of the Genetics of Tissue-specific Autoimmunity study?

This study is designed to learn more about how the immune system works in patients with autoimmune disease compared to those people without disease. Several types of blood tests will be performed to look at autoantibodies. Antibodies are produced by lymphocytes or white blood cells in response to pathogens or other danger signals. When the immune system mistakes our own tissues as foreign or dangerous, autoantibodies which recognize self-tissue can be produced. Studying these autoantibodies can help us understand which tissues the immune system is targeting. Besides looking at the antibodies that are produced, the study will also look at some of the genes involved in causing autoimmune disease, such as the AIRE gene which causes APS 1. By studying the autoantibodies and genes involved in autoimmune syndromes, the investigators hope to understand the problems in the immune system that lead to destruction of normal tissue and autoimmune disease.

Who is eligible?
You are eligible if you:

• Are at least 6 years old and weigh >18kg (40 pounds)
• Have autoimmune disease of one or more organs (examples: parathyroid, thyroid, adrenal, lung, ovary, diabetes)
• Have evidence of autoimmunity (conditions associated with autoimmune disease or autoantibodies)
• Do not have autoimmune disease and have a family member that does (high risk defined by current studies
• Do not have autoimmune disease (healthy volunteer control)

You are NOT eligible if you:

• Are lymphopenic (<1000 lymphocytes/ml)Are not in sufficient health to undergo a routine blood draw.

What is involved?

• An initial visit will involve drawing (about 4 tablespoons) blood from your vein (blood volume may be lower and will not exceed the standard recommendation of 5% of total blood volume).
• With your permission, you may be asked to come back for a follow-up blood draw

Is there any cost?

No, there is no cost to participate in this study.

Do I get any reimbursement for my time and effort?

Yes, you may be paid up to $50 for your participation.

For more information:
Contact Dr. Mark Anderson, MD, PhD, Dr. Mickie Cheng, MD, PhD or Dr. Anthony Shum, MD at 415-502-9581 or email at [email protected]