ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives


These findings expand the cellular phenotype of human ISG15 deficiency and reveal the importance of ISG15 for regulating oxidative stress, branched chain amino acid metabolism, and mitochondrial function in humans. The results validate ruxolitinib as treatment for ISG15 deficiency and suggest itaconate-based medications as additional therapeutics for this rare disorder. © 2022 The Authors. Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.

Authors Waqas SF, Sohail A, Nguyen AHH, Usman A, Ludwig T, Wegner A, Malik MNH, Schuchardt S, Geffers R, Winterhoff M, Merkert S, Martin U, Olmer R, Lachmann N, Pessler F
Journal Clinical and translational medicine
Publication Date 2022 Jul;12(7):e931
PubMed 35842904
PubMed Central PMC9288839
DOI 10.1002/ctm2.931

Research Projects

Cell Lines