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Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
Biomarker and diagnostic research for RNASEH2A-related type 1 interferonopathy has been reported in the published literature.
No clinical trials have been registered for RNASEH2A-related type 1 interferonopathy.
78 publications have been identified in PubMed for RNASEH2A-related type 1 interferonopathy. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (24%), and Review / Meta-Analysis (22%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 26 | 33% |
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 10:12 PM UTC
Common questions about RNASEH2A-related type 1 interferonopathy
Patient case studies
19 |
24% |
Research summaries | 17 | 22% |
Disease patterns and progression | 8 | 10% |
Testing and diagnosis research | 4 | 5% |
Clinical study results | 3 | 4% |
New treatment approaches | 1 | 1% |
Triaille C (2026). [PMID: 41932423](https://pubmed.ncbi.nlm.nih.gov/41932423/). *Am J Kidney Dis*. [Case Report / Case Series]
Moreau TRJ (2026). [PMID: 41105236](https://pubmed.ncbi.nlm.nih.gov/41105236/). *Rheumatology (Oxford)*. [Diagnostic / Biomarker]
Sharma M (2026). [PMID: 42251732](https://pubmed.ncbi.nlm.nih.gov/42251732/). *Rheumatology (Oxford)*. [Epidemiology / Natural History]
Hinze C (2026). [PMID: 41533099](https://pubmed.ncbi.nlm.nih.gov/41533099/). *Z Rheumatol*. [Review / Meta-Analysis]
Emreol HE (2026). [PMID: 41496005](https://pubmed.ncbi.nlm.nih.gov/41496005/). *Rheumatology (Oxford)*. [Case Report / Case Series]
Betrancourt A (2026). [PMID: 41792265](https://pubmed.ncbi.nlm.nih.gov/41792265/). *Nat Cell Biol*. [Basic Science / Preclinical]
Calame DG (2026). [PMID: 41959779](https://pubmed.ncbi.nlm.nih.gov/41959779/). *medRxiv*. [Basic Science / Preclinical]
Han VX (2026). [PMID: 42016148](https://pubmed.ncbi.nlm.nih.gov/42016148/). *Clin Transl Immunology*. [Basic Science / Preclinical]
David C (2026). [PMID: 41395910](https://pubmed.ncbi.nlm.nih.gov/41395910/). *Ann Rheum Dis*. [Epidemiology / Natural History]
Lam MT (2026). [PMID: 41638262](https://pubmed.ncbi.nlm.nih.gov/41638262/). *J Allergy Clin Immunol*. [Diagnostic / Biomarker]