Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

ISG15 deficiency is a rare disease caused by autosomal recessive variants in the ISG15 gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 protein is essential for IFN-γ-dependent anti-mycob...

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Bibliographic Details
Main Authors: Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, Karen Stals, Wendy D. Jones, Anthony Gait, Vignesh Jayarajan, Wei-Li Di, Neil Sebire, Lea Solman, Malobi Ogboli, Steven B. Welch, Annapurna Sudarsanam, Ian Wacogne, Fiona Price-Kuehne, Barbara Jensen, Paul A. Brogan, Despina Eleftheriou
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Immunology
Subjects:
ISG15 deficiency
ISG15
interferonopathy
microdeletion
Janus kinase inhibition
baricitinib
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1287258/full

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