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...

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Detalles Bibliográficos
Autores principales: Broser, Philip, von Mengershausen, Ursula, Heldt, Katrin, Bartholdi, Deborah, Braun, Dominique, Wolf, Christine, Lee-Kirsch, Min Ae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995680/
https://www.ncbi.nlm.nih.gov/pubmed/35410415
http://dx.doi.org/10.1186/s12969-022-00686-7

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