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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doaj-3ba3211e25ce4b91a25e49112305e6e12020-11-25T00:15:24ZengFrontiers Media S.A.Frontiers in Immunology1664-32242018-10-01910.3389/fimmu.2018.02496416415Monogenic Lupus: A Developing Paradigm of DiseaseJessie M. Alperin0Lourdes Ortiz-Fernández1Amr H. Sawalha2Amr H. Sawalha3Division of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, United StatesDivision of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, United StatesDivision of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, United StatesCenter for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, United StatesMonogenic 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.https://www.frontiersin.org/article/10.3389/fimmu.2018.02496/fulllupusmonogenicfamilialgeneticmendelian |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jessie M. Alperin Lourdes Ortiz-Fernández Amr H. Sawalha Amr H. Sawalha |
spellingShingle |
Jessie M. Alperin Lourdes Ortiz-Fernández Amr H. Sawalha Amr H. Sawalha Monogenic Lupus: A Developing Paradigm of Disease Frontiers in Immunology lupus monogenic familial genetic mendelian |
author_facet |
Jessie M. Alperin Lourdes Ortiz-Fernández Amr H. Sawalha Amr H. Sawalha |
author_sort |
Jessie M. Alperin |
title |
Monogenic Lupus: A Developing Paradigm of Disease |
title_short |
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_sort |
monogenic lupus: a developing paradigm of disease |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Immunology |
issn |
1664-3224 |
publishDate |
2018-10-01 |
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. |
topic |
lupus monogenic familial genetic mendelian |
url |
https://www.frontiersin.org/article/10.3389/fimmu.2018.02496/full |
work_keys_str_mv |
AT jessiemalperin monogeniclupusadevelopingparadigmofdisease AT lourdesortizfernandez monogeniclupusadevelopingparadigmofdisease AT amrhsawalha monogeniclupusadevelopingparadigmofdisease AT amrhsawalha monogeniclupusadevelopingparadigmofdisease |
_version_ |
1725387059886030848 |