The complement system and human autoimmune diseases.

Autor: Coss SL; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA. Electronic address: Samantha.coss2@nationwidechildrens.org., Zhou D; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Chua GT; Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China., Aziz RA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA; Department of Allergy, Immunology and Rheumatology, University of Buffalo, NY, USA., Hoffman RP; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Wu YL; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA; Department of Microbiology and Immunology, Loyola University Chicago, Maywood, IL, USA., Ardoin SP; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Atkinson JP; Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St Louis, MO, USA., Yu CY; Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA. Electronic address: chack-yung.yu@nationwidechildrens.org.
Jazyk: angličtina
Zdroj: Journal of autoimmunity [J Autoimmun] 2023 May; Vol. 137, pp. 102979. Date of Electronic Publication: 2022 Dec 18.
DOI: 10.1016/j.jaut.2022.102979
Abstrakt: Genetic deficiencies of early components of the classical complement activation pathway (especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic autoimmune disease systemic lupus erythematosus (SLE), but their prevalence is extremely rare. In contrast, isotype genetic deficiency of C4A and acquired deficiency of C1q by autoantibodies are frequent among patients with SLE. Here we review the genetic basis of complement deficiencies in autoimmune disease, discuss the complex genetic diversity seen in complement C4 and its association with autoimmune disease, provide guidance as to when clinicians should suspect and test for complement deficiencies, and outline the current understanding of the mechanisms relating complement deficiencies to autoimmunity. We focus primarily on SLE, as the role of complement in SLE is well-established, but will also discuss other informative diseases such as inflammatory arthritis and myositis.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2022 The Authors. Published by Elsevier Ltd.. All rights reserved.)
Databáze: MEDLINE
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