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Monogenic Lupus: A Developing Paradigm of Disease

Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system. To date, a significant number of genes have b...

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Autores principales: Alperin, Jessie M., Ortiz-Fernández, Lourdes, Sawalha, Amr H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232876/
https://www.ncbi.nlm.nih.gov/pubmed/30459768
http://dx.doi.org/10.3389/fimmu.2018.02496
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author Alperin, Jessie M.
Ortiz-Fernández, Lourdes
Sawalha, Amr H.
author_facet Alperin, Jessie M.
Ortiz-Fernández, Lourdes
Sawalha, Amr H.
author_sort Alperin, Jessie M.
collection PubMed
description Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system. To date, a significant number of genes have been implicated in monogenic lupus, providing valuable insights into a very complex disease process. Throughout this review, we will summarize the genes reported to be associated with monogenic lupus or lupus-like diseases, and the pathogenic mechanisms affected by the mutations involved upon inducing autoimmunity.
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spelling pubmed-62328762018-11-20 Monogenic Lupus: A Developing Paradigm of Disease Alperin, Jessie M. Ortiz-Fernández, Lourdes Sawalha, Amr H. Front Immunol Immunology Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system. To date, a significant number of genes have been implicated in monogenic lupus, providing valuable insights into a very complex disease process. Throughout this review, we will summarize the genes reported to be associated with monogenic lupus or lupus-like diseases, and the pathogenic mechanisms affected by the mutations involved upon inducing autoimmunity. Frontiers Media S.A. 2018-10-30 /pmc/articles/PMC6232876/ /pubmed/30459768 http://dx.doi.org/10.3389/fimmu.2018.02496 Text en Copyright © 2018 Alperin, Ortiz-Fernández and Sawalha. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Alperin, Jessie M.
Ortiz-Fernández, Lourdes
Sawalha, Amr H.
Monogenic Lupus: A Developing Paradigm of Disease
title Monogenic Lupus: A Developing Paradigm of Disease
title_full Monogenic Lupus: A Developing Paradigm of Disease
title_fullStr Monogenic Lupus: A Developing Paradigm of Disease
title_full_unstemmed Monogenic Lupus: A Developing Paradigm of Disease
title_short Monogenic Lupus: A Developing Paradigm of Disease
title_sort monogenic lupus: a developing paradigm of disease
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232876/
https://www.ncbi.nlm.nih.gov/pubmed/30459768
http://dx.doi.org/10.3389/fimmu.2018.02496
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