Varaico: Literature-Extracted Genetic Variants

Gene:ISG15
Variant:p.T95delFs
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ISG15

NM_005101.4:p.T95delFs

Associated Papers

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

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report.

Buda G et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."