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...
Bewaard in:
| Hoofdauteurs: | , , , , , , |
|---|---|
| Formaat: | Text |
| Taal: | Engels |
| Gepubliceerd in: |
BioMed Central
2022
|
| Onderwerpen: | |
| Online toegang: | 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 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|