The complement system and human autoimmune diseases

被引：74

作者：

Coss, Samantha L. ^{[1
,2
]}

Zhou, Danlei ^{[1
,2
]}

Chua, Gilbert T. ^{[3
]}

Aziz, Rabheh Abdul ^{[2
,4
]}

Hoffman, Robert P. ^{[1
,2
]}

Wu, Yee Ling ^{[1
,2
,5
]}

Ardoin, Stacy P. ^{[1
,2
]}

Atkinson, John P. ^{[6
]}

Yu, Chack-Yung ^{[1
,2
]}

机构：

[1] Nationwide Childrens Hosp, Abigail Wexner Res Inst, Columbus, OH 43215 USA

[2] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA

[3] Univ Hong Kong, Dept Pediat & Adolescent Med, Hong Kong, Peoples R China

[4] SUNY Buffalo, Dept Allergy Immunol & Rheumatol, Buffalo, NY USA

[5] Loyola Univ Chicago, Dept Microbiol & Immunol, Maywood, IL USA

[6] Washington Univ, Dept Med, Div Rheumatol, Sch Med, St Louis, MO USA

来源：

JOURNAL OF AUTOIMMUNITY | 2023年 / 137卷

关键词：

Autoantibodies; Complement; Classical pathway; Gene copy number variations; Genetic and acquired deficiencies; Systemic lupus erythematosus; Idiopathic inflammatory myopathies; Juvenile dermatomyositis; type I interferon induced gene expression; Antiphospholipid syndrome; Polymorphisms; rheumatoid arthritis; juvenile idiopathic arthritis; MANNOSE-BINDING LECTIN; MAJOR HISTOCOMPATIBILITY COMPLEX; LUPUS-ERYTHEMATOSUS SLE; RP-C4-CYP21-TNX RCCX MODULES; CLASS-III REGION; DEFINITE ANTIPHOSPHOLIPID SYNDROME; INTERNATIONAL CONSENSUS STATEMENT; RHEUMATOID-ARTHRITIS PATIENTS; CIRCULATING IMMUNE-COMPLEXES; COPY-NUMBER VARIATIONS;

D O I：

10.1016/j.jaut.2022.102979

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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 wellestablished, but will also discuss other informative diseases such as inflammatory arthritis and myositis.

引用

页数：25

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