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Case Report: ISG15 Deficiency Caused by Novel Variants in Two Families and Effective Treatment with Janus Kinase Inhibition

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

FRONTIERS IN IMMUNOLOGY（2023）

Cited 1|Views41
Key words
ISG15 deficiency,ISG15,interferonopathy,microdeletion,Janus kinase inhibition,baricitinib,whole exome sequencing,interferon
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