Junghee Jenny Shin, MD, PhD, assistant professor of medicine (rheumatology, allergy and immunology), recently received a research grant from the Immune Deficiency Foundation (IDF). Her project is one of five supported by IDF in 2023 to advance the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency disorders.
The goal of Shin’s research is to predict the severity of clinical symptoms for individuals with CD40LD, or X-linked hyper IgM syndrome, a rare inborn error of immunity that occurs in one out of every 1,000,000 live births. Early in life, individuals with the condition can develop life-threatening infections, liver disease, and cancers, among other complications, and the median survival time from diagnosis is 25 years, according to Shin.
“The symptoms of patients with CD40LD vary widely, and the underlying mechanism for these diverse clinical manifestations is largely unknown,” she said.
For the project, Shin will work in the laboratory of her mentor, Insoo Kang, MD, professor of medicine (rheumatology, allergy and immunology), to examine the connection between the severity of disease and certain properties of CD40LD patients’ T cells, a type of white blood cell involved in the body’s immune response. She will also look at how the T cells of affected individuals differ from those of unaffected individuals. She hopes the results of this study—the first of its kind to use in-depth immune profiling techniques in people with CD40LD—will help patients receive better treatment and avoid complications of the disease.
“The identification of distinct T-cell characteristics in people with CD40LD will facilitate the development of individualized treatment strategies that can limit further infection, prevent the development of cancer, and improve survival,” Shin said.
The Section of Rheumatology, Allergy and Immunology is dedicated to providing care for patients with rheumatic, allergic, and immunologic disorders; educating future generations of thought leaders in the field; and conducting research into fundamental questions of autoimmunity and immunology. To learn more about their work, visit Rheumatology, Allergy & Immunology.