Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report
BACKGROUND: Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor MDA5 which senses viral dsRNA and activates antiviral type I interferon (IFN) signaling. In SGMRT1, IFIH1 mutations co...
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| Main Authors: | , , , , , , |
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| 格式: | Text |
| 语言: | 英语 |
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BioMed Central
2022
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| 主题: | |
| 在线阅读: | https://pmc.ncbi.nlm.nih.gov/articles/PMC8995680/ https://pubmed.ncbi.nlm.nih.gov/35410415 http://dx.doi.org/10.1186/s12969-022-00686-7 |
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