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Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus
- Source :
- Joint Bone Spine, Joint Bone Spine, 2017, pp.589-593. ⟨10.1016/j.jbspin.2016.12.008⟩, Joint Bone Spine, Elsevier Masson, 2017, pp.589-593. ⟨10.1016/j.jbspin.2016.12.008⟩
- Publication Year :
- 2016
-
Abstract
- Objective Studies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE. Methods GENIAL/LUMUGENE is a French nationwide study of the clinical, immunological, and genetic features of juvenile-onset SLE (clinicaltrials.gov # NCT01992666 ). Clinical and laboratory data from the first 64 patients younger than 18 years who were included in the first part of the study were collected retrospectively. Predefined criteria were used to divide the patients into three subgroups: syndromic SLE ( n = 10) and familial SLE ( n = 12) – both presumed to have a strong genetic component – and other forms of early-onset SLE ( n = 42). Results The predefined criteria for identifying subgroups based on knowledge of the clinical and epidemiological features of monogenic SLE showed a significantly younger age at onset in syndromic SLE ( P Conclusions In this study, clinical and epidemiological data alone failed to identify a specific patient subgroup characterized by the same disease presentation or progression. This result may be related to the small sample size or indicate marked heterogeneity of juvenile-onset SLE. Genetic studies using new sequencing techniques in these patients might identify genetic factors responsible for marked phenotypic variability.
- Subjects :
- 0301 basic medicine
Male
[SDV]Life Sciences [q-bio]
030232 urology & nephrology
Autoimmunity
Disease
medicine.disease_cause
Pediatrics
Severity of Illness Index
Cohort Studies
0302 clinical medicine
immune system diseases
Epidemiology
Lupus Erythematosus, Systemic
Monogenic lupus
Age of Onset
skin and connective tissue diseases
Child
Systemic lupus erythematosus
Incidence
Age Factors
Phenotype
3. Good health
Child, Preschool
Cohort
Disease Progression
[SDV.IMM]Life Sciences [q-bio]/Immunology
Female
medicine.medical_specialty
Adolescent
Risk Assessment
03 medical and health sciences
Sex Factors
Rheumatology
Internal medicine
medicine
Genetics
Humans
Genetic Predisposition to Disease
Retrospective Studies
business.industry
medicine.disease
030104 developmental biology
Disease Presentation
Immunology
business
Anti-SSA/Ro autoantibodies
Follow-Up Studies
Subjects
Details
- ISSN :
- 17787254 and 1297319X
- Volume :
- 84
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Joint bone spine
- Accession number :
- edsair.doi.dedup.....15502223aefdd27258c840ed8806191c