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Monogenic Lupus: A Developing Paradigm of Disease.


ABSTRACT: 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.

SUBMITTER: Alperin JM 

PROVIDER: S-EPMC6232876 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Monogenic Lupus: A Developing Paradigm of Disease.

Alperin Jessie M JM   Ortiz-Fernández Lourdes L   Sawalha Amr H AH  

Frontiers in immunology 20181030


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 o  ...[more]

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