Expanding IPEX: Inborn Errors of Regulatory T Cells

Regulatory T cells (Tregs) play a crucial role in enforcing immune tolerance in the periphery, preventing the activation of autoreactive cells, production of autoantibodies, and development of autoimmune and allergic diseases. Through both cell contactdependent and independent mechanisms, Tregs downmodulate responses of autoreactive T and B cells, shift antigen presenting cells (APCs) from being immune stimulatory to tolerogenic, and achieve their agenda of maintaining immune tolerance.1 It is thus not surprising that disorders of Tregs, or Tregopathies, lead to widespread immune dysfunction. In this review, we focus on monogenic inborn errors of immunity (IEIs) leading to impaired Treg development, stability, and function with subsequent immune dysregulation. These conditions may present throughout life with autoimmune, atopic, and infectious manifestations.

Automated summary

Regulatory T cells (Tregs) are essential for immune tolerance, and disorders of Tregs can lead to immune dysregulation. This review focuses on monogenic inborn errors of immunity (IEIs) affecting Treg development, stability, and function, leading to autoimmune, atopic, and infectious manifestations.