- Pediatrics, Division of Endocrinology
- Inflammatory Disease Institute
4123 Thurston Building, CB #7280
The Su lab is interested in understanding the genetics of autoimmune diseases using both mouse models and patient samples. Our work is highly translational and aims to have direct relevance to human disease. One of our approaches is to study rare Mendelian autoimmunity syndromes in order to determine the contributions of a particular gene to developing autoimmunity. We have focused on Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1 or APECED), a rare condition due to mutations in the Autoimmune Regulator (Aire) gene. We are interested in how Aire promotes tolerance and have utilized both APS1 mouse models and patient samples to understand the disease mechanisms underlying this condition.
We are also interested in understanding how dysregulation of the immune system results in Type 1 Diabetes Mellitus, an autoimmune disease in which beta cells in pancreatic islets are destroyed. We are primarily using patient samples to study how the balance of suppressor of effector arms of the immune system become dysregulated to cause autoimmunity against beta cells.
Wang Yunqi, Su Maureen A, and Wan Yisong Y. “An essential role of the transcription factor GATA-3 for the function of regulatory T cells.” Immunity. In press. doi:10.1016/j.immuni.2011. 08.012
Anderson Mark S. and Su Maureen A. Aire and T cell development. Current Opinions in Immunology. Apr 2011; 23(2):198-206.
Su Maureen A and Anderson Mark S. Monogenic Autoimmune Diseases: Insights into self-tolerance. Pediatric Research, May 2009; 65(5 Pt 2):20R-25R. PMCID: PMC2951117.
Su Maureen A, Stenerson Matthew, Liu Weihong, Putnam Amy, Conte Felix, Bluestone Jeffrey A., and Anderson Mark S. The role of X-linked FOXP3 in the autoimmune susceptibility of Turner Syndrome patients. Clinical Immunology, Apr 2009; 131(1):139-44. PMCID: PMC2949956.
Louvet Cedric, Kabre Benwende G, Davini Dan W, Martinier Nicolas, Su Maureen A, DeVoss Jason J, Rosenthal Wendy L, Anderson Mark S, Bour-Jordan Helene, Bluestone Jefferey A. A novel myelin P0-specific T cell receptor transgenic mouse develops a fulminant autoimmune peripheral neuropathy. Journal of Experimental Medicine. Mar 16 2009; 206(3):507-14. PMCID: PMC2699118.
Su Maureen A, Giang Karen, Zumer Kristina, Jiang Huimin, Oven Irena, Rinn John L, Devoss Jason J, Johannes Kellsey P, Lu Wen, Gardner James, Chang Angela, Bubulya Paula, Chang Howard Y, Peterlin B Matija, Anderson Mark S. Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire. Journal of Clinical Investigation, May, 2008; 118(5): 1712-26. PMCID: PMC2293336.
Gardner James M, Devoss Jason J, Friedman Rachel S, Wong David J, Tan Ying X, Zhou Xuyu, Johannes Kellsey P, Su Maureen A, Chang Howard Y, Krummel Matthew F, Anderson Mark S. Deletional tolerance mediated by extrathymic Aire-expressing cells. Science, Aug 8, 2008; 321(5890): 843-7. PMCID: PMC2532844.
Zhang Li, Barker Jennifer M, Babu S, Su Maureen, Stenerson Matthew, Cheng Mickie, Shum Anthony, Zamir Ehud, Badolato Raffaele, Law Adam, Eisenbarth George S, Anderson Mark S. A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1. Clinical Immunology, Nov, 2007; 125(2):131-7. PMCID: PMC2080870
Sipe Walter E, Su Maureen, Posselt Andrew, Kim Grace E, Quiros Jose A, Rosenthal Philip. Propylthiouracil-associated liver failure presenting as probable autoimmune hepatitis in a child with Graves' disease. Pediatric Transplantation, Jun 2006; 10(4):525-8.