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Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
No clinical trials have been registered for RNU7-1-related type 1 interferonopathy.
6 publications have been identified in PubMed for RNU7-1-related type 1 interferonopathy. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Other (17%).
Chui MM (2025). [PMID: 40319040](https://pubmed.ncbi.nlm.nih.gov/40319040/). *NPJ genomic medicine*. [Other]
Le Floch K (2025). [PMID: 40442339](https://pubmed.ncbi.nlm.nih.gov/40442339/). *Pediatric radiology*. [Case Report / Case Series]
Stine L (2025). [PMID: 40552831](https://pubmed.ncbi.nlm.nih.gov/40552831/). *mBio*. [Review / Meta-Analysis]
Spracklen TF (2025). [PMID: 39748568](https://pubmed.ncbi.nlm.nih.gov/39748568/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Zhou Y (2024). [PMID: 38914753](https://pubmed.ncbi.nlm.nih.gov/38914753/). *World journal of pediatrics : WJP*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC
Common questions about RNU7-1-related type 1 interferonopathy