JAK 1/2 Blockade in MDA5 Gain-of-Function
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DOI: 10.1007/s10875-018-0563-2
Abstract: To the Editor, Mendelian type I interferonopathies are an increasingly recognized cause of treatment-refractory multisystem inflammation [1]. Here we report the beneficial effect of the JAK 1/2 inhibitor ruxolitinib in an infant with progressive neurological… read more here.
Keywords: jak blockade; age; mda5 gain; blockade mda5 ... See more keywords
An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000004921
Abstract: IFIH1 gain-of-function causes a spectrum of neuroinflammatory phenotypes associated with enhanced type I interferon production and Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway activation.1,2 Patients most often present in infancy, variably exhibiting… read more here.
Keywords: ifih1; label trial; jak; jak blockade ... See more keywords