Monogenic Lupus: A Developing Paradigm of Disease

Abstract

Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system. To date, a significant number of genes have been implicated in monogenic lupus, providing valuable insights into a very complex disease process. Throughout this review, we will summarize the genes reported to be associated with monogenic lupus or lupus-like diseases, and the pathogenic mechanisms affected by the mutations involved upon inducing autoimmunity.

Keywords: familial; genetic; lupus; mendelian; monogenic.

Figure 1

Schematic representation depicting genes and chromosomal locations previously identified to be implicated in monogenic lupus. This figure was produced using ‘circlize' in R (http://cran.r-project.org/web/packages/circlize/).

Figure 2

Protein-protein interaction network of proteins encoded by genes found to cause monogenic lupus. The confidence of data supporting these interactions are represented by the thickness of the lines. The analysis was performed using STRING V10.0 (STRING https://string-db.org/).