ArticleACR open rheumatology2025
Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.
Article in ACR open rheumatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Machine learning reveals X chromosome transcriptional signatures that classify systemic lupus erythematosus in females.BMC rheumatology · 2026Article
- Exosomes as immunomodulators in autoimmune inflammation: implications for primary Sjögren's disease.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2025Review
- Common pathological mechanisms and therapeutic strategies in primary Sjogren's syndrome and primary biliary cholangitis: from tissue immune microenvironment to targeted therapy.Frontiers in immunology · 2025Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSystemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
methodsThis multicenter, retrospective cohort study used TriNetX, a global federated research database. Using International Statistical Classification of Diseases, Tenth Revision, Clinical Modification codes, patients with a diagnosis of SLE or SjD in the general population, as well as those with SLE and SjD in KS (karyotype 47,XXY) and triple X syndrome (karyotype 47,XXX) from January 1, 2010, to January 1, 2024, were identified. Fisher's exact test was used to calculate the relative risk of SLE and SjD in males with KS and females with triple X syndrome compared with the general population. The 95% confidence intervals (95% CI) were obtained with STATA statistical software.
resultsA total of 113,748,373 patients were identified. The prevalence of SLE and SjD was 0.59% and 0.077%, respectively, in men, and 0.381% and 0.388% for SLE and SjD, respectively, in women. The male-to-female ratios for all ages were 1:6.4 for SLE and 1:5 for SjD. The prevalence of KS and triple X syndrome in the general population was 0.0017% and 0.0010%, respectively. Among patients with KS, the prevalence of SLE and SjD was both 0.5%. Among patients with triple X syndrome, the prevalence of SLE and SjD was 1.3% and 0.8%, respectively. SLE was 8.5-fold (95% CI 4.6-15.8) and SjD was 6.6-fold (95% CI 3.56-12.26) more common in KS compared with the general male population (P < 0.001 by Fisher's exact test). SLE was 3.5-fold (95% CI 2.09-5.72) and SjD was 2.3-fold (95% CI 1.22-4.20) more common in triple X syndrome compared with the general female population (P < 0.001 and P < 0.05, respectively).
conclusionThe extra X chromosome in KS and triple X syndrome appears to confer a nonproportional, synergistic dose effect on the development of SLE and SjD when compared with the general population.
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