APS1 and Autoimmune Disease in Patients Age 6 Weeks and Up


Study Name: Genetics of Tissue-Specific Autoimmunity

Study Sponsors: Burroughs Wellcome Foundation; National Institutes of Health, National Institute of Child Health and Human Development.

Principal Investigator: Mark S. Anderson, MD, PhD; Mickie H. Cheng, MD, PhD; and Anthony K. Shum, MD.


Who can sign up for this study? (basic inclusion and exclusion criteria)

You are eligible if you:

  • 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 this study about? 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.


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


How long will this study last? This study is ongoing with an open end date


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


For more information please contact: Dr. Mark Anderson, MD, PhD, Dr. Mickie Cheng, MD, PhD or Dr. Anthony Shum MD at 415-502-9581 or email at mickie.cheng@ucsf.edu

Please visit our website for more information.