Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report
Abstract 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 muta...
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | مقال |
| اللغة: | English |
| منشور في: |
BMC
2022-04-01
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| سلاسل: | Pediatric Rheumatology Online Journal |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1186/s12969-022-00686-7 |