Kothur, K;
Bandodkar, S;
Chu, S;
Wienholt, L;
Johnson, A;
Barclay, P;
Brogan, PA;
... Dale, RC; + view all
(2018)
An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation.
Neurology
, 90
(6)
pp. 289-291.
10.1212/WNL.0000000000004921.
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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 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.
| Type: | Article |
|---|---|
| Title: | An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation |
| Location: | United States |
| DOI: | 10.1212/WNL.0000000000004921 |
| Publisher version: | https://doi.org/10.1212/WNL.0000000000004921 |
| Language: | English |
| Additional information: | This is the published version of record. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10042225 |
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