自身抗体
自身免疫
补体缺乏
免疫学
补体系统
疾病
经典补体途径
医学
系统性红斑狼疮
自身免疫性疾病
抗体
病理
作者
Samantha Coss,Danlei Zhou,Gilbert T. Chua,Rabheh Abdul‐Aziz,Robert P. Hoffman,Yee Ling Wu,Stacy P. Ardoin,John Atkinson,C. Yung Yu
标识
DOI:10.1016/j.jaut.2022.102979
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 well-established, but will also discuss other informative diseases such as inflammatory arthritis and myositis.
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