First-degree relatives of patients with systemic lupus erythematosus: Autoreactivity but not autoimmunity?
antinuclear antibodies
antinuclear antibody patterns
autoimmunity
first-degree relatives
systemic lupus erythematosus
transforming growth factor-β
Journal
International journal of rheumatic diseases
ISSN: 1756-185X
Titre abrégé: Int J Rheum Dis
Pays: England
ID NLM: 101474930
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
revised:
28
01
2023
received:
13
10
2022
accepted:
02
03
2023
medline:
3
5
2023
pubmed:
22
3
2023
entrez:
21
3
2023
Statut:
ppublish
Résumé
Systemic lupus erythematosus (SLE) is a disorder with a complex immunopathogenesis. It is well known that the disease begins with immunological alterations and autoantibody appearance in the serum years before clinical onset. As SLE has a strong tendency to familial aggregation, first-degree relatives (FDRs) constitute a group at elevated risk. The current understanding is that external risk factors trigger underlying immune dysregulations, leading to overt disease in those with elevated genetic risk. This cross-sectional study investigates the degree to which clinical features, external risk factors, and immunological profiles differ in SLE FDRs from healthy individuals and SLE patientts. Three groups were studied: Lupus patient FDRs (n = 56), healthy controls (n = 20), and SLE patients (n = 20). FDRs and healthy participants completed a detailed clinical questionnaire that included questions regarding smoking and estrogen drug history. All participants were tested for the presence of the following antinuclear autoantibodies (ANAs) against: nRNP/Sm, Sm, Ro60, Ro-52, La, Scl-70, PM-Scl, PM- Scl, Jo-1, CENP B, PCNA, dsDNA, nucleosomes, histones, RibP, AMA M2, DFS70, and eight soluble cytokines, including transforming growth factor-β (TGF-β), vitamin D levels, and antibodies against Epstein-Barr virus (EBV). Compared with the healthy controls, FDRs had higher titers of ANA, more specific staining immunofluorescent patterns, and more autoantibody specificities. Furthermore, FDRs differed significantly in their TGF-β levels from the other two groups. In FDRs, some clinical features (hair loss, skin, and oral ulcer-like lesions) were associated with higher ANA titers and some (oral ulcer-like lesions) with the anti-Ro60-specific antibody. Interestingly, there was an association between ANA titers and levels of antibodies against EBV only in the FDR group. First-degree relatives display unique clinical and immunological profiles, placing them between healthy individuals and SLE patients, with a balance between compensated immune dysregulation and disease-developing potential. A possible association between ANA titer and the number of clinical complaints is observed, which needs to be confirmed in more extensive studies.
Sections du résumé
BACKGROUND
BACKGROUND
Systemic lupus erythematosus (SLE) is a disorder with a complex immunopathogenesis. It is well known that the disease begins with immunological alterations and autoantibody appearance in the serum years before clinical onset. As SLE has a strong tendency to familial aggregation, first-degree relatives (FDRs) constitute a group at elevated risk. The current understanding is that external risk factors trigger underlying immune dysregulations, leading to overt disease in those with elevated genetic risk.
OBJECTIVE
OBJECTIVE
This cross-sectional study investigates the degree to which clinical features, external risk factors, and immunological profiles differ in SLE FDRs from healthy individuals and SLE patientts.
METHODS
METHODS
Three groups were studied: Lupus patient FDRs (n = 56), healthy controls (n = 20), and SLE patients (n = 20). FDRs and healthy participants completed a detailed clinical questionnaire that included questions regarding smoking and estrogen drug history. All participants were tested for the presence of the following antinuclear autoantibodies (ANAs) against: nRNP/Sm, Sm, Ro60, Ro-52, La, Scl-70, PM-Scl, PM- Scl, Jo-1, CENP B, PCNA, dsDNA, nucleosomes, histones, RibP, AMA M2, DFS70, and eight soluble cytokines, including transforming growth factor-β (TGF-β), vitamin D levels, and antibodies against Epstein-Barr virus (EBV).
RESULTS
RESULTS
Compared with the healthy controls, FDRs had higher titers of ANA, more specific staining immunofluorescent patterns, and more autoantibody specificities. Furthermore, FDRs differed significantly in their TGF-β levels from the other two groups. In FDRs, some clinical features (hair loss, skin, and oral ulcer-like lesions) were associated with higher ANA titers and some (oral ulcer-like lesions) with the anti-Ro60-specific antibody. Interestingly, there was an association between ANA titers and levels of antibodies against EBV only in the FDR group.
CONCLUSION
CONCLUSIONS
First-degree relatives display unique clinical and immunological profiles, placing them between healthy individuals and SLE patients, with a balance between compensated immune dysregulation and disease-developing potential. A possible association between ANA titer and the number of clinical complaints is observed, which needs to be confirmed in more extensive studies.
Identifiants
pubmed: 36942901
doi: 10.1111/1756-185X.14669
doi:
Substances chimiques
Autoantibodies
0
Antibodies, Antinuclear
0
Transforming Growth Factor beta
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
907-916Subventions
Organisme : Medical University of Sofia
ID : 141/24.06.2020
Organisme : Medical University of Sofia
ID : 8366/20.11.19
Organisme : "Dr. Anka and Petar Balevi" Association
Informations de copyright
© 2023 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
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