Mutated Nod2 Enhances Pathogenic Th17 Responses That Promote Experimental Blau Syndrome

Poster presenter: Leah Huey, BS, PhD Candidate, Oregon Health & Science University

Poster title: Mutated Nod2 Enhances Pathogenic Th17 Responses That Promote Experimental Blau Syndrome

Poster session C: Monday, Nov. 18

What is your poster about?

“My research is focused on understanding the pathogenesis of the rare pediatric rheumatological disease, Blau syndrome. Blau syndrome is characterized by symptoms that develop in early childhood including arthritis, uveitis, and dermatitis. Blau syndrome is caused by point mutations in the gene NOD2, but it is unknown how these mutations manifest symptoms in Blau syndrome. I am investigating how mutations in NOD2 alter T-cell function, and my poster is demonstrating a role for T-cells with a Blau NOD2 mutation in promoting uveitis. Understanding how T-cells play a role in Blau syndrome will be instrumental in understanding how we can best treat this debilitating disease.”

Why did you decide to investigate this topic?

“I am passionate about rare disease, especially pediatric immune diseases. These patient populations are often neglected, and my heart goes out to the families and patients that are navigating healthcare systems, diagnosis, and treatment. Blau syndrome is understudied, and our previous findings showing a novel role for NOD2 in T-cells opened up the possibility that T-cells could be pathogenic in Blau syndrome. We wanted to investigate how T-cells could be impacting Blau syndrome with the hope that T-cells could be used for targeted treatment.”

What are you working on next related to this research?

“While we have identified a role for NOD2 in T-cells and can see a functional impact in T-cell biology, we don’t yet understand the role for NOD2 in T-cells. I am working to understand the mechanistic role for NOD2 in T-cells.”

What excites you most about your work?

“There is still so much we don’t know about the human body and how the immune system works within it, especially when the immune system goes haywire. I am excited about investigating the ‘brakes’ of the immune system and how we can restore balance to the immune system when it is out of control.”

What are you most looking forward to at ACR Convergence 2024 in Washington, D.C.?

“I am looking forward to seeing new research surrounding T-cell biology, networking, and presenting my work.”