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

• Main Authors: Philip Broser (Author), Ursula von Mengershausen (Author), Katrin Heldt (Author), Deborah Bartholdi (Author), Dominique Braun (Author), Christine Wolf (Author), Min Ae Lee-Kirsch (Author)
• Format: Book
• Published: BMC, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...