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...

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Main Authors: Philip Broser, Ursula von Mengershausen, Katrin Heldt, Deborah Bartholdi, Dominique Braun, Christine Wolf, Min Ae Lee-Kirsch
格式: Artigo
語言:Inglês
出版: BMC 2022-04-01
叢編:Pediatric Rheumatology Online Journal
主題:
Singleton Merten syndrome
Type I interferon
Therapy
Janus kinase inhibitor
Ruxolitinib
Auto inflammation
在線閱讀:https://doi.org/10.1186/s12969-022-00686-7
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