Journal
NEUROLOGY
Volume 90, Issue 6, Pages 289-291Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000004921
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Funding
- Petre Foundation
- Australian Postgraduate award
- European Research Council [GA 309449]
- ERA-NET Neuron [MR/M501803/1]
- National Research Agency (France) under the Investments for the Future [ANR-10-IAHU-01]
- Medical Research Council [MR/M501803/1] Funding Source: researchfish
- Rosetrees Trust [M465, M8-F1-CD1, M8-F2-CD1] Funding Source: researchfish
- MRC [MR/M501803/1] Funding Source: UKRI
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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.
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