Yale Medicine serves as Connecticut’s premier primary immunodeficiency center for pediatric and adult patients.
Primary immunodeficiencies, also known as inborn errors of immunity (IEI), present with features involving a disruption of the body’s immune system. The alteration of the immune system can lead to various clinical manifestations, including recurrent infection, autoimmunity, hematopoietic malignancy, lung disease, and enteropathy. These conditions are caused by monogenetic and polygenetic defects or epigenetic changes.
We focus on the evaluation, diagnosis, and management of patients with primary immunodeficiency through in-depth genetic and immunological laboratory tests. In addition to patient care, our group works through research to help advance our understanding of immunodeficiency.