Systemic lupus erythematosus: Is it one disease?

Reumatol Clin. 2016 Sep-Oct;12(5):274-81. doi: 10.1016/j.reuma.2016.01.005. Epub 2016 Feb 26.
[Article in English, Spanish]

Abstract

Systemic lupus erythematosus (SLE) is a multisystemic disease with a variety of clinical presentations. Monogenic predisposing conditions to the development of this disease have been described. As examples, an impaired expression of interferon-α regulated genes or complement deficiencies have been reported in patients with SLE, with particular clinical presentations. Those defects present particular presentations and a different severity, making an argument that lupus is not a single disease but many. Treatment could be individualized depending on the underlying defect generating the subtype of the disease.

Keywords: Complement deficiency; Deficiencia de complemento; Inmunodeficiencia primaria; Interferonopathy; Interferonopatía; Lupus eritematoso sistémico; Primary immunodeficiency; Systemic lupus erythematosus.

Publication types

  • Review

MeSH terms

  • Genetic Markers
  • Genotype*
  • Humans
  • Lupus Erythematosus, Systemic / diagnosis
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / therapy
  • Phenotype*
  • Precision Medicine*
  • Severity of Illness Index

Substances

  • Genetic Markers