Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report

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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Hlavní autoři: Philip Broser, Ursula von Mengershausen, Katrin Heldt, Deborah Bartholdi, Dominique Braun, Christine Wolf, Min Ae Lee-Kirsch
Médium: Článek
Jazyk:English
Vydáno: BMC 2022-04-01
Edice:Pediatric Rheumatology Online Journal
Témata:
Singleton Merten syndrome
Type I interferon
Therapy
Janus kinase inhibitor
Ruxolitinib
Auto inflammation
On-line přístup:https://doi.org/10.1186/s12969-022-00686-7

Internet

https://doi.org/10.1186/s12969-022-00686-7

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