Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.

Abstract

Inborn errors of immunity (IEI) are monogenic disorders of the immune system that frequently present with autoimmunity or autoinflammation, necessitating multi-specialty care. In many cases, patients may present for rheumatologic evaluation prior to a genetic diagnosis, highlighting the need for recognition of an underlying IEI with immune dysregulation. Here, we review IEI that can present with rheumatologic and autoimmune complications and the role of genetic testing for establishing a molecular diagnosis and devising personalized treatment plans to improve patient outcomes.