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Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
No clinical trials have been registered for SAMHD1-related type 1 interferonopathy.
4 publications have been identified in PubMed for SAMHD1-related type 1 interferonopathy. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Emreol HE (2026). [PMID: 41496005](https://pubmed.ncbi.nlm.nih.gov/41496005/). *Rheumatology (Oxford)*. [Case Report / Case Series]
Le Floch K (2025). [PMID: 40442339](https://pubmed.ncbi.nlm.nih.gov/40442339/). *Pediatr Radiol*. [Case Report / Case Series]
Stine L (2025). [PMID: 40552831](https://pubmed.ncbi.nlm.nih.gov/40552831/). *mBio*. [Review / Meta-Analysis]
Luca D (2025). [PMID: 39680957](https://pubmed.ncbi.nlm.nih.gov/39680957/). *Hum Mol Genet*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 6:23 PM UTC
Common questions about SAMHD1-related type 1 interferonopathy