Associated Papers
A novel homozygous ISG15 missense variant leads to severe inflammatory skin lesions, interstitial pneumonia, and basal ganglia calcifications in a Chinese infant with ISG15 deficiency.
Zhang X et al.
Gene, 2025
Successful treatment with tofacitinib in a child diagnosed with ISG15 deficiency.
Murias Loza S et al.
Clinical Immunology (orlando, Fla.), 2024
First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation.
Napoleao SMDS et al.
Journal of Clinical Immunology, 2024
A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia.
Xu Q et al.
Clinical Immunology (orlando, Fla.), 2023
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.
Martin-Fernandez M et al.
Cell Reports, 2020
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