Tried, True, and New: Diagnostics in Inborn Errors of Immunity

This lecture will provide an overview of selected clinical immunology laboratory developed tests that can be used to assist clinicians in the diagnosis, monitoring, and management of patients with inborn errors of immunity.

Lecture Presenter
Rebecca A. Marsh, MD
Rebecca A. Marsh, MD
Professor, Department of Pediatrics, Univeristy of Cincinnati
Clinical Director, Primary Immune Deficiency Program; Co-Director, Diagnostic Immunology Laboratories
Clinical Director, HLH Center of Excellence, Cincinnati Children's Hospital Medical Center

Dr. Rebecca Marsh is currently a professor of clinical pediatrics at the University of Cincinnati and works in the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital. She co-directs the Diagnostic Immunology Laboratory (DIL), a niche reference laboratory providing a variety of diagnostic testing related to inborn errors of immunity (IEI) and immunologic disorders. Dr. Marsh completed medical school and pediatrics residency training at Rush University Medical College and Medical Center, and fellowship training in clinical immunodeficiency and bone marrow transplantation at Cincinnati Children’s Hospital. Dr. Marsh specializes in the treatment of patients with inborn errors of immunity. Her research interests center around developing novel tests for patients with IEI, improving allogeneic bone marrow transplant outcomes for these patients, and developing safe and effective treatments for X-linked inhibitor of apoptosis (XIAP) deficiency.

Objectives

After this presentation, participants will be able to:

Describe how clinical immunology laboratory functional tests can be used to interrogate genetic variants of uncertain significance in genes related to inborn errors of immunity
Describe how clinical immunology laboratory biomarkers can be used to monitor disease flares and therapeutic responses in patients with inborn errors of immunity