An open label trial of JAK 1/2 blockade in progressive IFIH1 associated neuroinflammation

Kavitha Kothur; Sushil Bandodkar; Stephanie Chu; Louise Wienholt; Alexandra Johnson; Peter  Barclay; Paul A. Brogan; Gillian Rice; Yanick Crow; Russell C Dale

An open label trial of JAK 1/2 blockade in progressive IFIH1 associated neuroinflammation

Kavitha Kothur
, Sushil Bandodkar
, Stephanie Chu
, Louise Wienholt
, Alexandra Johnson
, Peter Barclay
, Paul A. Brogan
, Gillian Rice
, Yanick Crow
, Russell C Dale

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	289-291
Number of pages	3
Journal	Neurology
Volume	90
Issue number	6
Early online date	1 Jan 2018
Publication status	Published - 6 Feb 2018

Cite this

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title = "An open label trial of JAK 1/2 blockade in progressive IFIH1 associated neuroinflammation",

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.",

author = "Kavitha Kothur and Sushil Bandodkar and Stephanie Chu and Louise Wienholt and Alexandra Johnson and Peter Barclay and Brogan, \{Paul A.\} and Gillian Rice and Yanick Crow and Dale, \{Russell C\}",

year = "2018",

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language = "English",

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T1 - An open label trial of JAK 1/2 blockade in progressive IFIH1 associated neuroinflammation

AU - Kothur, Kavitha

AU - Bandodkar, Sushil

AU - Chu, Stephanie

AU - Wienholt, Louise

AU - Johnson, Alexandra

AU - Barclay, Peter

AU - Brogan, Paul A.

AU - Rice, Gillian

AU - Crow, Yanick

AU - Dale, Russell C

PY - 2018/2/6

Y1 - 2018/2/6

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85049789976

M3 - Article

SN - 0028-3878

VL - 90

SP - 289

EP - 291

JO - Neurology

JF - Neurology

IS - 6

ER -

An open label trial of JAK 1/2 blockade in progressive IFIH1 associated neuroinflammation

Abstract

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