Monogenic Autoimmune Diseases.
10.4078/jrd.2018.25.4.213
- Author:
Dae Chul JEONG
1
Author Information
1. 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. dcjeong@catholic.ac.kr
- Publication Type:Review
- Keywords:
Autoimmune diseases;
Genes;
Systemic lupus erythematosus;
Interferon
- MeSH:
Acute-Phase Proteins;
Adult;
Apoptosis;
Autoimmune Diseases*;
Chilblains;
Complement System Proteins;
Fever;
Humans;
Inflammation;
Interferons;
Livedo Reticularis;
Lung Diseases, Interstitial;
Lupus Erythematosus, Systemic;
Panniculitis;
Skin
- From:Journal of Rheumatic Diseases
2018;25(4):213-220
- CountryRepublic of Korea
- Language:English
-
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.
