Inborn errors of immunity associated with defects of self‐tolerance checkpoints: The CD28 family. Issue 12 (4th December 2022)

• Record Type: Journal Article
• Authors: Rush‐Kittle, Jorrell; Gámez‐Díaz, Laura; Grimbacher, Bodo
• Is Part Of: Pediatric allergy and immunology. Volume 33:Issue 12(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-12-04
• Subjects: autoimmunity -- CVID -- CD28 family -- immune dysregulation -- immunodeficiency -- inborn errors of immunity -- PID -- self‐tolerance; Allergy in children -- Periodicals; Immunologic diseases in children -- Periodicals; 617
• DOI: 10.1111/pai.13886
• Languages: English
• ISSNs: 0905-6157

Abstract

Abstract: One of the causes of inborn errors of immunity is immune dysregulation. The inability of the immune system to regulate the extent of its activity has several deleterious effects, including autoimmunity, recurrent infections, and malignancy. In recent years, many proteins in the CD28 family – CD28, ICOS, CTLA‐4, PD‐1, and BTLA – have come into the focus of several research areas for their consequential role in the upregulation or downregulation of the immune response. In this review, we will discuss the structure and function of these proteins, as well as provide an overview of the clinical picture of patients with genetic defects.