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Current Rheumatology Reports

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01-12-2016 | Systemic Lupus Erythematosus (G Tsokos, Section Editor)

Monogenic Lupus

Author: Mindy S. Lo

Published in: Current Rheumatology Reports | Issue 12/2016

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).

Summary

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.

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Title: Monogenic Lupus
Author: Mindy S. Lo
Publication date: 01-12-2016
Publisher: Springer US
Published in: Current Rheumatology Reports / Issue 12/2016
Print ISSN: 1523-3774
Electronic ISSN: 1534-6307
DOI: https://doi.org/10.1007/s11926-016-0621-9

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