Monogenic polyautoimmunity in primary immunodeficiency diseases

Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of immunological tolerance and immune responses. This group of monogenic PIDs is at high risk of developing polyautoimmunity (i.e., the presence of more than one autoimmune disease in a single patient) because of their impaired immunity. In this review, we discuss the mechanisms of autoimmunity in PIDs and the characteristics of polyautoimmunity in the following PIDs: IPEX; monogenic IPEX-like syndrome; LRBA deficiency; CTLA4 deficiency; APECED; ALPS; and PKC? deficiency. © 2018 Elsevier B.V.

• Fecha de publicación: 2018
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/23289
• Acceso en línea: https://doi.org/10.1016/j.autrev.2018.05.001; https://repository.urosario.edu.co/handle/10336/23289
• Palabra clave: Interleukin 2 receptor alpha; Stat protein; Transcription factor; Transcription factor bch2; Ubiquitin protein ligase e3; Unclassified drug; Signal transducing adaptor protein; Activated phosphoinositide 3 kinase delta syndrome; Autoimmune disease; Autoimmune lymphoproliferative syndrome; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; Autoimmune polyglandular syndrome; Cytotoxic t lymphocyte antigen 4 deficiency; Gene mutation; Haploinsufficiency; Human; Immune deficiency; Ipex syndrome; Itchy e3 ubiquitin protein ligase deficiency; Jak-stat signaling; Lps responsive beige like anchor protein deficiency; Monogenic disorder; Nonhuman; Omenn syndrome; Pathogenesis; Phenotype; Polyautoimmunity; Primary immunodeficiency disease; Protein expression; Protein kinase c delta deficiency; Review; Animal; Autoimmune disease; Genetics; Immune deficiency; Immunological tolerance; Immunology; Mutation; Pathophysiology; Animals; Autoimmune diseases; Humans; Immune tolerance; Immunologic deficiency syndromes; Mutation; Autoimmunity; Ctla4; Ipex; Lrba; Polyautoimmunity; Polyglandular autoimmune syndromes; Primary immunodeficiency; Regulatory t cell; signal transducing; Adaptor proteins
• License: Abierto (Texto Completo)