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

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 activate...

Source: Pediatric Rheumatology - April 11, 2022 Category: Rheumatology Authors: Philip Broser, Ursula von Mengershausen, Katrin Heldt, Deborah Bartholdi, Dominique Braun, Christine Wolf and Min Ae Lee-Kirsch Tags: Case Report Source Type: research