Results for Chromosome 22q11.2

Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.

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.