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

This lecture offers the following credit types: CME, P.A.C.E.®, Florida
 

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.

Originally published on October 7, 2025

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

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories