Immune dysregulation diseases have clinical characteristics that are similar to multiorgan autoimmunity. An disturbed immune homeostasis is characterized by gastrointestinal involvement. This review will provide an overview of the new phenotypes, stressing the key features that will aid in early detection and treatment. The fast advancement of DNA sequencing technology has resulted in the identification of monogenic abnormalities that have a negative influence on immune homeostasis regulation. Lymphocytes may be present but defective, enabling excessive autoreactivity and autoimmune illness to develop. Regulatory T cells (Tregs) are critical in imposing immunological tolerance. In this section, researchers show disorders caused by defects in the mechanisms that ensure Treg function, in which autoimmunity is a hallmark of the clinical disease presentation, as well as other disorders that affect molecules more broadly involved in immune responses and cause immune dysregulation indirectly. Clinical presentation can be deceiving at times, as symptoms are frequently similar in various illnesses, leading to misdiagnosis.
Improved and, in some circumstances, tailored treatment will be possible as our understanding of immunological principles underlying immune dysregulation disorders grows. In this group of individuals, a genetic diagnosis provides critical information, especially because some may require hematopoietic stem cell transplantation.