.png){kind=icon}
.png){kind=icon}
Return
The complement system and human autoimmune diseases
.png){kind=icon}
OA
AI
DOI：10.1016/j.jaut.2022.102979.png)
.png){kind=icon}
Original request for help.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
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.
Keywords:
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
Journal
IF:
7
Papers:
3.1K
Citations:
1.0W
Organization
View more organizations