Monogenic systemic lupus erythematosus: insights in pathophysiology

被引：17

作者：

Batu, Ezgi Deniz ^{[1
]}

机构：

[1] Univ Hlth Sci, Ankara Training & Res Hosp, Dept Pediat, Div Rheumatol, TR-06100 Ankara, Turkey

来源：

RHEUMATOLOGY INTERNATIONAL | 2018年 / 38卷 / 10期

关键词：

Systemic lupus erythematosus; Monogenic SLE; Complement system; Apoptosis; Self-tolerance; AICARDI-GOUTIERES-SYNDROME; SEVERE COMBINED IMMUNODEFICIENCY; HUMAN C1Q DEFICIENCY; MOLECULAR-BASIS; C3; DEFICIENCY; TREX1; GENE; LYMPHOPROLIFERATIVE SYNDROME; GRANULOMATOUS-DISEASE; CLINICAL PRESENTATION; CELL TRANSPLANTATION;

D O I：

10.1007/s00296-018-4048-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1763 / 1775

页数：13

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