Associated Papers
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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA et al.
Journal of Clinical Immunology, 2020
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
Primary familial brain calcification: update on molecular genetics.
Taglia I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
Zhang X et al.
Nature, 2015
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.
Ramirez-Alejo N et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2014
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.
Bogunovic D et al.
Science (new York, N.y.), 2012