‘Major advancement’: Interferon signature may be helpful biomarker in pediatric Sjögren’s
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Most pediatric patients with Sjögren’s disease displayed an interferon signature in their blood and parotid gland tissue, which could help confirm diagnoses and shorten treatment delays, according to data presented at EULAR 2024 Congress.
“This can actually be used and introduced in clinical practice, not only in patients with Sjögren's syndrome but also in children, actually, as a new diagnostic test,” Dirk Foell, MD, chair of the EULAR pediatric rheumatology committee, said during a press conference at the meeting. “That’s a major advancement.”
The data came from a study from Gwenny M. Verstappen, PharmD, PhD, of the University of Groningen, in the Netherlands, and colleagues, which Foell highlighted during the press conference.
To identify potentially dysregulated molecular pathways in patients with pediatric Sjögren’s disease, Verstappen and colleagues examined whole blood samples from 18 children diagnosed with Sjögren’s disease and 23 age- and sex-matched controls with no immune-mediated disease. Ten of the 18 patients with Sjögren’s disease had snap-frozen parotid gland biopsies available.
Whole transcriptome analysis was conducted on the blood samples, and researchers measured the expression of interferon-stimulated genes (ISG) in blood and parotid gland biopsies.
According to the researchers, ISG were elevated in 72% (n = 13) of patients with Sjögren’s disease. Compared with those with low blood ISG expression, patients with high ISG also demonstrated more positive ANA — 100% vs. 60% — as well as more presence of anti-SSA/Ro antibodies — 92% vs. 0% — and rheumatoid factor — 92% vs. 0%. No patients with high ISG had elevated C-reactive protein levels, while 40% of those with low ISG did.
Expression of two specific ISGs — IFITM1 and CXCL10 — in parotid gland tissue was positively correlated with their expression in blood, the researchers wrote.
“Pediatric Sjögren’s disease is not so easy to diagnose, especially in those who do not have prominent autoimmune features with autoantibodies,” Foell said. “This new work shows a laboratory test as a diagnostic procedure.”
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Bootsma H. OP0226. Presented at: EULAR 2024 Congress; June 12 to June 15, 2024, Vienna, Austria.
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