Exploring Type I Interferonopathies: From Molecular Signatures to Clinical Implications

By
Ismail Yaz
Seza Ozen
Hacer N. Bildik
Canberk Ipsir
Dilara Unal
Saliha Esenboga
Begum Cicek
Mehmet E. Seker
Fatima Aerts-Kaya
Seher Sener
Mehmet O. Erkan
Hanife Avci
Deniz Cagdas
Ilhan Tezcan
June 22, 2026

Arthritis & Rheumatology

Objective:

To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN-I signaling, and assess diagnostic utility of IFN signature, CXCL10 levels, antiviral activity.

Approach:

Patient Inclusion: Forty-six patients with clinical or genetic findings consistent with type I interferonopathies were included.
Assessment Methods: The IFN signature, CXCL9 and IFNG were assessed using RT-qPCR (n=34 each). Serum CXCL10 levels were also evaluated.

Key Findings:

Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN-I signaling.
Diagnosis is complicated by clinical and molecular variability and the necessity for IFN-I quantification.

Interpretation:

Limitations:

The study's sample size may limit the generalizability of the findings.
Potential biases in patient selection could affect the results.

Conclusion:

The findings contribute to understanding the diagnostic challenges and molecular characteristics of type I interferonopathies.

Sources:

Article DOI

Exploring Type I Interferonopathies: From Molecular Signatures to Clinical Implications

Objective:

Approach:

Key Findings:

Interpretation:

Limitations:

Conclusion:

Sources:

Original Source(s)

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

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