Could interferon signature aid in the diagnosis and stratification of pediatric Sjögren’s?

Identifying potentially dysregulated molecular pathways

2024-06-14

(Press-News.org) Sjögren’s disease is rare in children, and presenting symptoms differ from those seen in adults. For example, paediatric patients present less often with sicca complaints, and more frequently with parotid gland swelling and fever.1 This new work aimed to identify potentially dysregulated molecular pathways in children with Sjögren’s disease by comparing the transcriptome of peripheral blood cells between 18 patients and 23 controls – using differential gene expression and pathway analysis. In addition to whole transcriptome analysis of blood samples, expression of interferon-stimulated genes (ISG) was measured in paired blood and parotid gland tissue samples.

Overall, there were 247 differentially expressed genes identified between patients and controls. Of these, 181 were upregulated and 66 downregulated. Gene set enrichment analysis showed enriched gene sets for interferon-gamma and -alpha response, inflammatory response, allograft rejection, fatty acid metabolism, and oxidative phosphorylation. ISG expression was elevated in 72% of children with Sjögren’s disease. These interferon-high patients all had positive antinuclear antibodies – and 92% had anti-SSA/Ro and rheumatoid factor – but none had elevated C-reactive protein (CRP). Patients without elevated ISG expression in their blood were less frequently positive for anti-nuclear antibodies, and none had anti-SSA/Ro or rheumatoid factor – but they more often had elevated CRP and fever.

ISG expression was seen in the parotid gland tissue of children with Sjögren’s disease and there was also elevated ISG expression as measured in blood. The expression of multiple ISGs in parotid gland tissue correlated positively with its expression in blood.

Presenting the work, Gwenny M. Verstappen said “The majority of patients showed an interferon signature in blood and parotid gland tissue. But compared to interferon-high patients, those without an interferon signature in blood had a different clinical presentation: they were less frequently positive for autoantibodies and showed more signs of acute infection.”

These findings suggest that the interferon signature may aid in the diagnosis and stratification of children with Sjögren’s disease, although further research with larger groups is needed.

Source

Bootsma H, et al. Potential value of the blood interferon signature in the diagnosis of pediatric-onset Sjögren’s disease patients. Presented at EULAR 2024; OP0226.

Ann Rheum Dis 2024; DOI: 10.1136/annrheumdis-2024-eular.6065.

References:

1. Legger GE, et al. Differences in presentation between paediatric- and adult-onset primary Sjögren's syndrome patients. Clin Exp Rheumatol 2021;39 Suppl 133(6):85–92.

2. Verstappen GM, et al. The Transcriptome of Paired Major and Minor Salivary Gland Tissue in Patients With Primary Sjögren's Syndrome. Front Immunol 2021;12:681941.

About EULAR

EULAR is the European umbrella organisation representing scientific societies, health professional associations and organisations for people with rheumatic and musculoskeletal diseases (RMDs). EULAR aims to reduce the impact of RMDs on individuals and society, as well as improve RMD treatments, prevention, and rehabilitation. To this end, EULAR fosters excellence in rheumatology education and research, promotes the translation of research advances into daily care, and advocates for the recognition of the needs of those living with RMDs by EU institutions.

Contact

EULAR Communications, communications@eular.org

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