ArticleRheumatology (Oxford, England)2025
Single-centre comparison of non-familial, familial and monogenic lupus.
Article in Rheumatology (Oxford, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Discordance between disease activity and long-term outcomes in DNASE1L3 deficiency: a multicentre longitudinal cohort study.Lupus science & medicine · 2026Article
- Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.EBioMedicine · 2026Article
- Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.Current rheumatology reports · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
objectivesThere is a significant genetic contribution to systemic lupus erythematosus (SLE). Monogenic SLE is a distinct form of SLE. We investigated whether familial or known monogenic lupus cases are distinguishable from non-familial lupus by clinical or laboratory phenotype in a population with high rates of consanguinity. PATIENTS AND
methodsWe performed a retrospective case-control study on 24 multiplex families, comprising 62 cases, and 95 non-familial lupus controls. Demographic and Systemic Lupus International Collaborating Clinics criteria were compared between the two groups. Familial cases were also evaluated by whole exome sequencing and cellular phenotyping. Statistical analysis was performed using R Studio.
resultsFamilial and non-familial lupus cases were similar although familial cases were younger at presentation (18 y vs 26 y, OR = 0.91, P = 1.61 × 10-5), a higher prevalence of synovitis (OR = 2.7, P = 0.013) and lower prevalence of high level of dsDNA antibodies (OR = 0.25, P = 1.9 × 10-3). Exome sequencing of a subset yielded a diagnostic rate of 36%. Monogenic lupus were distinguished from other familial cases by an even younger age at presentation (6 y vs 19 y, OR = 0.82, P = 2.13 × 10-3), non-biased male-to-female ratio (P = 0.077) and expansion of exhausted CD4+ T cells (CD4+CD45RA+PD-1+) (P = 1.7 × 10-4).
conclusionOverall, clinical phenotype is a poor indicator of familial or monogenic lupus. Familial lupus and monogenic familial lupus (MoFL) tend to present at a younger age than the Non-MoFL, exhibit less female bias and in some cases are distinguished by a lymphocyte signature. Consanguinity increases the rate of monogenic familial lupus and these cases can present in adulthood.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.