Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs*6)

Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs*6)

IntroductionAutosomal dominant mutations in the C-terminal part of TREX1 (pVAL235Glyfs*6) result in fatal retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) without any treatment options. Here, we report on a treatment of a RVCLS patient with anti-retroviral d...

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Bibliographic Details
Main Authors: Friederike Ufer, Susanne M. Ziegler, Marcus Altfeld, Manuel A. Friese
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Neurology
Subjects:
TREX1
brain vascular disorder
hereditary autoinflammatory diseases
CXCL10
immunosuppression
JAK inhibition
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1118369/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1118369/full

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