Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome
Inborn errors of immunity (IEI) are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Autoimmune cytopenias such as immune thrombocytopenia (ITP) and Evans syndrome (combination of ITP and autoimmune hemolytic anemia) are increasingly recognized phenotypes of IEI. While recent findings suggest that IEI may commonly underlie pediatric ITP and Evans syndrome, its prevalence in adult patients with these disorders remains undefined. Identifying underlying IEI has potential implications on diagnosis, prognosis, and disease management. This study sought to estimate the prevalence of underlying IEI among adults with persistent or chronic ITP or Evans syndrome using a next generation sequencing panel encompassing 370+ genes implicated in IEI.