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

5 Dec 2023

Abstract excerpt

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-mycobacterial immunity, while intracellularly, ISG15 is necessary for USP18-mediated downregulation of IFN-α/β...

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PMID: 38115997
DOI: 10.3389/fimmu.2023.1287258

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