J Rheum Dis 2018; 25(4): 213-220  
Monogenic Autoimmune Diseases
Dae Chul Jeong
Division of Pediatric Rheumatology and Clinical Immunology, Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
Correspondence to: Dae Chul Jeong http://orcid.org/0000-0003-0934-817X
Division of Pediatric Rheumatology and Clinical Immunology, Department of Pediatrics, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea. E-mail:dcjeong@catholic.ac.kr
Received: March 13, 2018; Revised: June 13, 2018; Accepted: June 28, 2018; Published online: October 1, 2018.
© Korean College of Rheumatology. All rights reserved.

This is a open Access article, which permits unrestricted non-commerical use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Monogenic autoimmune diseases (AD) present as lupus-like clinical manifestations with recurrent fever or various vasculopathies. Recurrent fever with an elevation of acute phase reactants and various skin lesions are similar in monogenic AD and autoinflammatory disease. The molecular pathogenesis of adult systemic erythematosus can be understood through monogenic AD based on gene defects: complement, apoptosis, interferonopathy via nucleic acid sensing, tolerance, rasopathies, and others. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common occurrences in type I interferonopathy. Some syndromes have been reported to present with autoimmune inflammation and the general clinical findings, including cerebral calcification. Various clinical manifestations in monogenic AD present in accordance with the gene loss- or gain-of-function mutations involved. The monogenic AD for the early onset of more severe lupus-like symptoms or vasculopathy needs to be considered. Furthermore, clinical trials were conducted via targeted therapy for related molecular pathways, because conventional treatments were not effective in managing monogenic AD.
Keywords: Autoimmune diseases, Genes, Systemic lupus erythematosus, Interferon


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