New Attempts to Define and Clarify Lupus

Current Rheumatology Reports
Marta E Alarcón-Riquelme

Abstract

The purpose is to discuss the advances that genetics and genomics have provided to better understand the molecular mechanisms behind SLE and how to solve its heterogeneity. I propose new ideas that can help us stratify lupus in order to find the best therapies for each patient, and the idea of substituting clinical diagnosis with molecular diagnosis according to their molecular patterns, an idea that may not only include lupus but also other diseases. The study of rare mutations may provide insight into groups of lupus patients where type I interferon signature is important and help understand those with an atypical clinical presentation. Recent papers used longitudinal blood transcriptome data correlating with disease activity scores to stratify lupus into molecular clusters. The implication of neutrophils in the risk to develop nephritis was established, but also that neutrophils and lymphocytes may correlate with activity differentiating the mechanisms of flares and separating patients into clinically separate groups. The role of type I interferon signature is important; however, the stratification of SLE patients according to the genes and cellular compartments being modulated during disease activity may be even more import...Continue Reading

References

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Citations

Aug 11, 2019·Lupus·M Y Choi, M J Fritzler
Jan 21, 2020·RMD Open·Guillermo J Pons-EstelUNKNOWN Grupo Latino Americano De Estudio de Lupus (GLADEL)
Mar 11, 2020·Lupus Science & Medicine·Ioannis ParodisFrédéric A Houssiau
Jan 25, 2020·Nature Reviews. Disease Primers·Hans-Joachim AndersChandra Mohan
May 1, 2021·Life·Raul Lopez-DominguezPedro Carmona-Saez
Oct 25, 2021·Allergy·Alain Lefèvre-UtileUNKNOWN MAARS consortium
Jan 26, 2022·Expert Review of Clinical Immunology·Martin AringerSindhu R Johnson

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Methods Mentioned

BETA
exome
genotyping
ESR

Software Mentioned

LINSCLOUD
CLUE

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