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Monogenic Lupus Is a Construct: Insights into the Current Nomenclature and Classification
Lujayn Akbar1 and Sulaiman M Al-Mayouf2*
1Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
2Pediatric Rheumatology, King Faisal Specialist Hospital & Research Center
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Abstract:
Monogenic lupus is a rare inherited entity, which has been increasingly recognized over the past decade. Monogenic lupus demonstrates heterogeneity in etiopathogenesis, phenotypes, and outcome compared to sporadic systemic lupus erythematous (SLE). Its distinctive features include early-onset disease, atypical manifestations of underlying diseases such as immunodeficiency, immune dysregulation, and refractory disease course. The term “monogenic lupus” has been used internationally to collectively describe a group of patients presenting with SLE or SLE-like symptoms with a proven underlying pathogenic variant. It has been considered a form of SLE irrespective of the differences observed. To date, there is no standardized definition or criteria to identify monogenic lupus. Therefore, this review highlights the differences between monogenic lupus and sporadic SLE to discuss the challenges related to the current nomenclature and unmet needs in the diagnosis of monogenic lupus. A considerable number of underlying pathogenic variants have recently been uncovered, leading to various pathways’ involvement with significant overlap. This allows us to propose a new definition for monogenic lupus which can be considered as a construct rather than a disease or syndrome.
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Keywords: Monogenic lupus, Systemic lupus erythematosus, Early onset lupus, Type I interferon
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Received:May 09, 2022; Revised:May 20, 2022; Accepted:May 29, 2022; Published:June 30, 2022
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*Corresponding author; e-mail: almayoufsulaiman@yahoo.com
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Citation:Akbar, L.; M, S.Monogenic Lupus Is a Construct: Insights into the Current Nomenclature and Classification. International Journal of Clinical Medicine and Bioengineering 2022, 2, 20-26. https://doi.org/10.35745/ijcmb2022v02.02.0002
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Copyright: ©
2022
The Author(s). Published with license by IIKII, Singapore. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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