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The Sullivan Lab focuses on new and rare immunodeficiencies and has a long-standing interest in one of the most common of the primary immunodeficiencies – chromosome 22q11.2 deletion syndrome, where patients are seen as part of the 22q and You Center. In this syndrome, T cells are low early in life but normalize in adulthood. Homeostatic proliferation incurs some consequences, however. In adulthood, the T cells are more prone to cause allergy and autoimmunity. In addition, the immunoglobulin levels and the antibody function declines in adulthood for some patients. The Sullivan Lab aims to understand the dynamics of this process and develop testing that will allow early identification of people who have impending humoral dysfunction.
The lab has also been involved in the study of common variable immunodeficiency. This is a poorly understood, usually late onset, immunodeficiency, with multiple clinical subsets and variable inheritance. Trying to risk stratify patients and define clinical outcomes is a significant interest in the overall Section of Immunology research.
For the past four years, the lab has also been involved with the Center for Very Early Onset Inflammatory Bowel Disease. A subset of patients has an underlying immunodeficiency and benefits from therapy targeted to their specific genetic type of inflammatory bowel disease. The Sullivan lab defines genetic causes and examines pathways that are dysfunctional.
The lab also has active research projects related to autoimmunity and inflammation, an effort primarily directed at understanding the epigenetics of systemic lupus erythematosus and other autoimmune/inflammatory diseases. The lab has found broadly altered packaging of DNA with some genes repressed inappropriately and some genes de-repressed. The types of analytic tools we use are ChIP-seq, RNA-seq and other molecular approach to dissect the epigenome and the causes. Ultimately, the investigators in the lab believe a cure must rely on resetting the epigenome.
- Immune deficiency in chromosome 22q11.2 deletion syndrome/DiGeorge syndrome
- Genetics and epigenetics of systemic lupus erythematosus
- Epigenetic and immunologic foundation of eosinophilic esophagitis
- Understanding immune dysregulation in very early onset inflammatory bowel disease
- Biomarkers of inflammatory diseases
- Rare and undiagnosed diseases
- Rubella in immunodeficient patients
- Primary immunodeficiency
Chief, Division of Allergy and Immunology
Dr. Sullivan's research focuses on new and rare immunodeficiencies. She has a long-standing interest in one of the most common of the primary immunodeficiencies – chromosome 22q11.2 deletion syndrome. She also investigates common variable immunodeficiency, as well as the genetics and epigenetics of systemic lupus erythematosus.