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

INTRODUCTION: Autosomal 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-retrovir...

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Detalles Bibliográficos
Autores principales: Ufer, Friederike, Ziegler, Susanne M., Altfeld, Marcus, Friese, Manuel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9989011/
https://www.ncbi.nlm.nih.gov/pubmed/36895907
http://dx.doi.org/10.3389/fneur.2023.1118369

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9989011/
https://www.ncbi.nlm.nih.gov/pubmed/36895907
http://dx.doi.org/10.3389/fneur.2023.1118369

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