The yin and yang of inborn errors of immunity – immunodeficiency and immune dysregulation

The inborn errors of immunity (IEIs) include genes with pathogenic variants that predispose not only to infections (immunodeficiencies) but also immune dysregulation (autoimmunity, lymphoproliferation, susceptibility malignancies). yin and yang, in the context IEIs, refers these seemingly opposing entities infection dysregulation. Over past decade or so, availability accessibility complex diagnostic tools immunology has increased exponentially advanced immunophenotyping, functional assays genomic analysis. This improved our ability diagnose patients IEIs more rapidly efficiently. For example, some presenting autoimmune cytopenias (AICs) may have an underlying IEI, which can change both approach treatment/management. Using case studies, this talk will discuss are available, clinically research setting, how tests help selection appropriate molecularly targeted therapies for effective management disorders. Approximately one-third all regulatory disorders, list continues grow. demonstrates diagnosis care span multiple specialties necessitating inter-disciplinary interactions management.