Immunodeficiencies
Daniel Kastner, MD, PhD
National Human Genome Research Institute
Bethesda, MD, United States
Disclosure(s): No financial relationships with ineligible companies to disclose
Carrie Lucas, PhD
Yale University
New Haven, CT, United States
Disclosure(s): Ono Pharma: Grant/Research Support (Ongoing); Pharming Healthcare: Advisor or Review Panel Member (Ongoing), Consultant (Ongoing)
Daniella Schwartz, MD (she/her/hers)
University of Pittsburgh
Pittsburgh, PA, United States
Disclosure(s): No relevant disclosure to display
Gulbu Uzel, MD
NIH
SILVER SPRING, MD, United States
Disclosure(s): No financial relationships with ineligible companies to disclose
Inborn errors of immunity (IEI) are rare diseases caused by single gene mutations with high effect size on immune cell development and function. Studying IEI provides unique insights into the basic mechanisms and functions of affected genes, whereas studying common pathogenic variants is held to be more relevant to common rheumatic diseases. However, discovery and investigation of IEIs has led to several critical insights about the role of common variants in promoting common autoimmune conditions like inflammatory arthritis and systemic lupus erythematosus. Moreover, many IEI phenotypes include elements of common rheumatic diseases, such that a subset of patients with common conditions should be screened for these rare disorders. In this session, the speakers will show how studying complex inborn errors of immunity can lead to insights about common rheumatic diseases, and inform treatment development and decisions for both rare and common conditions.
Speaker: Daniel Kastner, MD, PhD – National Human Genome Research Institute
Speaker: Gulbu Uzel, MD – NIH
Speaker: Daniella Schwartz, MD (she/her/hers) – University of Pittsburgh
Speaker: Carrie Lucas, PhD – Yale University