Monogenic systemic lupus erythematosus: insights in pathophysiology

Batu E. D.

RHEUMATOLOGY INTERNATIONAL, cilt.38, sa.10, ss.1763-1775, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 38 Sayı: 10
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s00296-018-4048-7
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1763-1775
  • Anahtar Kelimeler: Systemic lupus erythematosus, Monogenic SLE, Complement system, Apoptosis, Self-tolerance, AICARDI-GOUTIERES-SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, SELECTIVE IGA DEFICIENCY, INNATE IMMUNE-RESPONSE, HUMAN C1Q DEFICIENCY, MOLECULAR-BASIS, LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE-DISEASE, DENDRITIC CELLS, C3 DEFICIENCY
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Systemic lupus erythematosus (SLE) is a complex disease with different genetic, immunologic, and environmental factors contributing to the pathogenesis. Monogenic SLE could help us understand the main phases of immune dysregulation in SLE. The aim of this review is to summarize the current knowledge on monogenic SLE with the implications of the respective genes on disease pathogenesis. A comprehensive literature search on monogenic SLE was conducted utilizing the Cochrane Library and MEDLINE/PubMed databases. The main affected pathways in disease pathogenesis are identified as follows: complement system, apoptosis, nucleic acid degradation, nucleic acid sensing, self-tolerance, and type I interferon production. Further studies on monogenic SLE can make precision medicine possible for SLE by increasing our understanding of disease pathogenesis.