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Review
. 2016 Dec;18(12):71.
doi: 10.1007/s11926-016-0621-9.

Monogenic Lupus

Mindy S Lo  1   2
Affiliations
Review

Monogenic Lupus

Mindy S Lo. Curr Rheumatol Rep. 2016 Dec.

Abstract

Purpose of review: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease known for its clinical heterogeneity. Over time, new insights into the complex genetic origin of SLE have started to explain some of this clinical variability. These findings, reviewed here, have also yielded important understanding in the immune mechanisms behind SLE pathogenesis.

Recent findings: Several new monogenic disorders with lupus-like phenotype have been described. These can be organized into physiologic pathways that parallel mechanisms of disease in SLE. Examples include genes important for DNA damage repair (e.g., TREX1), nucleic acid sensing and type I interferon overproduction (e.g., STING, TREX1), apoptosis (FASLG), tolerance (PRKCD), and clearance of self-antigen (DNASE1L3). Further study of monogenic lupus may lead to better genotype/phenotype correlations in SLE. Eventually, the ability to understand individual patients according to their genetic profile may allow the development of more targeted and personalized approaches to therapy.

Keywords: Monogenic lupus; SLE; Systemic lupus erythematosus; Type I interferon.

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