An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation
K Kothur, S Bandodkar, S Chu, L Wienholt, A Johnson… - Neurology, 2018 - AAN Enterprises
Neurology, 2018•AAN Enterprises
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 spasticity, dystonia, seizures, and acquired microcephaly. We
report the use of ruxolitinib, a JAK 1/2 blocker, in the treatment of early-onset, progressive
neurologic disease due to an IFIH1 mutation.
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 spasticity, dystonia, seizures, and acquired microcephaly. We
report the use of ruxolitinib, a JAK 1/2 blocker, in the treatment of early-onset, progressive
neurologic disease due to an IFIH1 mutation.
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 spasticity, dystonia, seizures, and acquired microcephaly. We report the use of ruxolitinib, a JAK 1/2 blocker, in the treatment of early-onset, progressive neurologic disease due to an IFIH1 mutation.
American Academy of Neurology